of transcriptionally active chromatin and general chromatin structure. Chromosome puffs are diffused uncoiled regions of the polytene chromosome that are sites of RNA Transcription genetics transcription . A Balbiani ring is a large chromosome puff. Polytene chromosomes were originally observed in the larval ... enlargement that provides for increased transcription is the lampbrush chromosome . Polytene ... year 1977 pages 197 212 volume 8 pmid 335467 cite journal author Bridges CB title Salivary chromosome ..., C. 1971. Virus chromosome relationships in cells of Rhynchosciara Diptera , Sciaridae . Caryologia ... Phaseolus Polytene chromosomes Plants DEFAULTSORT Polytene Chromosome Category Genetics ca Cromosoma polit nic cs Polyt nn chromoz m de Riesenchromosom es Cromosoma polit nico fr Chromosome polyt ne ... more details
Infobox disease Name Philadelphia chromosome Image Bcrablmet.jpg Caption A metaphase cell positive for the bcr abl rearrangement using Fluorescent in situ hybridization FISH DiseasesDB ICD10 ICD10 C 92 1 c 81 ICD9 ICD9 205.1 ICDO 9875 3 OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D010677 Philadelphia chromosome or Philadelphia translocation is a specific chromosome chromosomal abnormality ... translocation translocation between chromosome 9 and 22, and is specifically designated t 9 22 q34 ... on G banded chromosome preparations, or a variant translocation involving another chromosome ... Ph chromosome is not sufficiently Specificity tests specific to diagnose CML, since ..., Shah NP, Kantarjian H, et al. title Dasatinib in imatinib resistant Philadelphia chromosome positive ... 300px Schematic representation of formation of the Philadelphia Chromosome The exact chromosomal defect in Philadelphia chromosome is a Chromosomal translocation translocation , in which parts of two ... the Abl gene Abl1 gene on chromosome 9 region q34 to a part of the BCR gene BCR breakpoint cluster region gene on chromosome 22 region q11 . This is a reciprocal translocation, creating an elongated chromosome 9 der 9 , and a truncated chromosome 22 the Philadelphia chromosome . ref name pmid12755554 ... derivative 22 chromosome. This gene encodes the Bcr abl fusion protein . Depending on the precise location ... Blast crisis blast crisis in CML. Nomenclature Philadelphia chromosome is designated Ph or Ph chromosome ... chromosome was first discovered and described in 1960 by Peter Nowell from University of Pennsylvania School of Medicine ref cite journal author Nowell P, Hungerford D title A minute chromosome in chronic ... of Chicago identified the mechanism by which the Philadelphia chromosome arises as a translocation ... 2 External links MeshName Philadelphia chromosome MeshName bcr abl Fusion Proteins Chromosomal abnormalities ... chromozom de Philadelphia Chromosom es Cromosoma Filadelfia fr Chromosome de Philadelphie ... more details
File O.Hertwig1906Fig5.jpg thumb Lampbrush chromosome from the cell nucleus of an ovarial egg from Triton, a Salamander species Lampbrush chromosomes first seen by Walther Flemming Flemming in 1882 are a special form of chromosomes that are found in the growing Oocyte oocytes immature eggs of most animals, except mammals ref Flemming W 1882 Zellsubstanz, Kern und Zelltheilung. Vogel, Leipzig. ref . Lampbrush chromosomes of tailed and tailless amphibians, birds and insects are described best of all ref Callan HG 1986 Lampbrush Chromosomes. Springer Verlag, Berlin, Heidelberg. 252pp. ref ref Morgan, G.T. 2002 Lampbrush chromosomes and associated bodies new insights into principles of nuclear structure and function. Chromosome Research. 10 177 200. ref ref Gaginskaya E, Kulikova T, Krasikova A 2009 Avian Lampbrush Chromosomes a Powerful Tool for Exploration of Genome Expression. Cytogenet Genome Res. V.124. P.251 267. ref . Chromosome Chromosomes transform into the lampbrush form during the diplotene stage of meiotic prophase I due to an active Transcription genetics transcription of many genes. They are highly extended meiotic half bivalents, each consisting of 2 sister chromatids. Lampbrush chromosomes are clearly visible even in the Optical microscope light microscope , where they are seen ... into principles of nuclear structure and function. Chromosome Research. 10 177 200. ref ref Gaginskaya ..., it has become possible to assess the frequency with which two loci along an interphase chromosome ... suggested. Giant chromosomes in the lampbrush form are useful model for studying chromosome organization ... new insights into principles of nuclear structure and function. Chromosome Research. 10 177 200 ... new insights into principles of nuclear structure and function. Chromosome Research. 10 177 200. br ... category Chromosomes http www.projects.ex.ac.uk lampbrush A site introducing a remarkable form of chromosome ... of Exeter. http rat.inst.bio.spbu.ru protocols.html Methods for making lampbrush chromosome preparations ... more details
Infobox Book See Wikipedia WikiProject Novels or Wikipedia WikiProject Books name The Calcutta Chromosome title orig translator image Image The Calcutta Chromosome.jpg 200px prefer 1st edition image caption author Amitav Ghosh illustrator cover artist country India language English series genre Thriller genre Thriller , Speculative fiction novel publisher Picador imprint Picador release date 1995 english release date media type Print Hardcover Hardback & Paperback pages 309 pp isbn 0330347586 oclc 35759000 preceded by followed by The Calcutta Chromosome is a 1995 ref http openlibrary.org books OL657975M Calcutta chromosome Openlibrary.org ref English language English language novel by India n author Amitav Ghosh . The book, for the most part set in Calcutta at some unspecified time in the future, is a medical Thriller genre thriller that dramatizes the adventures of apparently disconnected people who are brought together by a mysterious turn of events. The book is loosely based on the life and times of Ronald Ross Sir Ronald Ross , the Nobel Prize winning scientist who achieved a breakthrough in malaria research in 1898 . The novel was the recipient of the Arthur C. Clarke Award in 1997. Plot summary The novel begins with the story of Antar, an employee of the LifeWatch organization, who recounts an encounter with L. Murugan, an employee of LifeWatch who has disappeared in Calcutta ..., a new variant of malaria would emerge and the group s research using the chromosome transfer technique would advance even further. Fact and fiction in The Calcutta Chromosome Ghosh employs a factual ... Ghosh s the Calcutta Chromosome. The Journal of Commonwealth Literature 38 2003 57 72. Huttunen, Tuoma. The Calcutta Chromosome The Ethics of Silence and Knowledge. Seeking the self encountering ..., England 2008 24 38. Notes Reflist Amitav Ghosh DEFAULTSORT Calcutta Chromosome Category Thriller ... set in India fr Le Chromosome de Calcutta it Il cromosoma Calcutta ... more details
Non allelic homologous recombination NAHR is a form of homologous recombination that occurs between two lengths of DNA that have high sequence homology biology homology , but are not allele s. ref name Hurles ref name pmid17637735 cite journal author Beckmann JS, Estivill X, Antonarakis SE title Copy number variants and genetic traits closer to the resolution of phenotypic to genotypic variability journal Nat. Rev. Genet. volume 8 issue 8 pages 639 46 year 2007 month August pmid 17637735 doi 10.1038 nrg2149 url ref It usually occurs between sequences of DNA that have been previously Segmental duplication duplicated through evolution, and therefore have low copy repeats LCRs . When non allelic homologous recombination occurs between different LCRs, Deletion genetics deletions or further Gene duplication duplications of the DNA can occur. This can give rise to rare genetic disorder s, caused by the loss or increased copy number of genes within the deleted or duplicated region. It can also contribute to the copy number variation seen in some gene clusters. ref name pmid20333217 cite journal author Karn RC, Laukaitis CM title The mechanism of expansion and the volatility it created in three pheromone gene clusters in the mouse Mus musculus genome journal Genome Biol Evol volume 1 issue pages 494 503 year 2009 pmid 20333217 pmc 2839280 doi 10.1093 gbe evp049 url ref As LCRs are often found in hotspots in the human genome, some chromosomal regions are particularly prone to NAHR. ref ... Homologous Recombination title Genomic Disorders The Genomic Basis of Disease pages 341 355 publisher ... cite journal author Venturin M, Gervasini C, Orzan F, et al. title Evidence for non homologous end joining and non allelic homologous recombination in atypical NF1 microdeletions journal Hum ... ref See also Genetic recombination Non homologous end joining References Reflist genetics stub DEFAULTSORT Non allelic homologous recombination Category Genetics ... more details
on chromosome 6 and one its edited copies on chromosome 20. This conjecture reconciles both the current ... due to sequencing of a processed gene on chromosome 20 journal Hum. Mutat. volume 31 issue ... DEFAULTSORT Bcl 2 Homologous Antagonist Killer Category Apoptosis Category Programmed cell death ... more details
Refimprove date December 2007 Chromosome combing also known as molecular combing or DNA combing is a technique used to produce an array of uniformly stretched DNA that is then highly suitable for nucleic acid hybridization studies such as Fluorescent in situ hybridization fluorescent in situ hybridisation FISH which benefit from the uniformity of stretching, the easy access to the hybridisation target sequences, ref name http www.sciencemag.org content 277 5331 1518.long http www.sciencemag.org content 277 5331 1518.long , ref and the X ray crystallography resolution offered by the large distance between two probes, which is due to the stretching of the DNA by a factor of 1.5 times the crystallographic length of DNA. DNA in solution i.e. has a random coil structure is stretched by retracting the meniscus of the solution at a constant rate typically 300 m s . The ends of DNA strands, which are thought to be frayed i.e. open and exposing polar groups bind to ionisable groups coating a silated glass plate at a pH below the pKa of the ionizable groups ensuring they are charged enough to interact with the ends of DNA . The rest of the DNA, which is mostly dsDNA, cannot form these interactions aside from a few touch down segments along the length of the DNA strand so is available for hybridisation to probes. As the meniscus retracts, surface retention creates a force that acts on DNA to retain it in the liquid phase however this force is inferior to the strength of the DNA s attachment the result is that the DNA is stretched as it enters the air phase as the force acts in the locality of the air liquid phase, it is invariant to different lengths or conformations of the DNA in solution, so DNA of any length will be stretched the same as the meniscus retracts. As this stretching is constant along the length of a DNA, distance along the strand can be related to base content 1 m is approximately equivalent to 2 kb. DNA regions of interest are observed by hybridising ... more details
Non homologous end joining NHEJ is a pathway that repairs double strand breaks in DNA. NHEJ is referred to as non homologous because the break ends are directly ligated without the need for a homologous template, in contrast to homologous recombination , which requires a homologous sequence to guide repair. The term non homologous end joining was coined in 1996 by Moore and Haber. ref name Moore and Haber Moore JK, Haber JE. Cell cycle and genetic requirements of two pathways of nonhomologous end joining repair of double strand breaks in Saccharomyces cerevisiae. Mol Cell Biol. 1996 May 16 5 2164 73. PMID 8628283 ref NHEJ typically utilizes short homologous DNA sequences called microhomologies ... doi 10.1016 j.molcel.2004.05.008 url ref In budding yeast Saccharomyces cerevisiae , however, homologous ... completely on homologous recombination to repair double strand breaks. NHEJ proteins have been identified ... 10.1016 j.molcel.2006.07.009 url ref Unlike homologous recombination , which has been studied extensively ... Mre11 roles in DNA repair beyond homologous recombination journal Nat. Struct. Mol. Biol. volume ... nuclease activity, but it seems to be involved in homologous recombination , not NHEJ. The DNA polymerase .... Yeast DNA ligase IV mediates non homologous DNA end joining. 1997 Nature 388, 495 498. DOI 10.1038 41365 PMID 9242411 ref XLF Protein XLF , also known as Cernunnos, is homologous to yeast Nej1 and is also ... dot DNA ligase IV Complex and Is Homologous to the Yeast Nonhomologous End joining Factor Nej1. J Biol ... in directing DNA double strand breaks to homologous and non homologous repair paths. 1999 Curr. Biol. 9 767 70. PMID 10421582 ref Regulation The choice between NHEJ and homologous recombination for repair ... NHEJ is active throughout the cell cycle, but is most important during G1 phase G1 when no homologous ... non homologous endjoining pathway are involved in telomeric length maintenance and telomeric silencing ... apoptosis. References reflist 2 DNA repair DEFAULTSORT Non Homologous End Joining Category DNA repair ... more details
A bacterial artificial chromosome BAC is a DNA construct , based on a functional fertility plasmid or F plasmid , used for Transformation genetics transforming and cloning in bacteria , usually E. coli . ref name OConnor1989 cite journal author O Connor M, Peifer M, Bender W year 1989 title Construction of large DNA segments in Escherichia coli journal Science volume 244 issue 4910 pages 1307 1312 doi 10.1126 science.2660262 pmid 2660262 ref ref name Shizuya1992 cite journal author Shizuya H, Birren B, Kim U J, Mancino V, Slepak T, Tachiiri Y, Simon M year 1992 title Cloning and stable maintenance of 300 kilobase pair fragments of human DNA in Escherichia coli using an F factor based vector journal ... the even distribution of plasmids after bacterial cell division. The bacterial artificial chromosome ... in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene journal Genome ... vector called a p1 derived artificial chromosome PAC has also been produced from the bacterial P1 ... chromosome using BAC DNA microarray arrays . BACs are preferred for these kind of genetic studies ... as an infectious bacterial artificial chromosome journal Proc Natl Acad Sci USA volume 97 issue 10 ... chromosome in Escherichia coli and recovery of infectious virus in mammalian cells journal Proc Natl ... bacterial artificial chromosome journal Proc Natl Acad Sci USA volume 94 issue 26 pages 14759 14763 ... rely on either linear or circular targeting vectors to carry out homologous recombination . ref ... content 1 1 6 . ref See also Human artificial chromosome Yeast artificial chromosome Fosmid ... Nucleic acids DEFAULTSORT Bacterial Artificial Chromosome Category Molecular biology ar ca Cromosoma artificial bacteri de Bacterial Artificial Chromosome es Cromosoma artificial bacteriano fr Chromosome artificiel bact rien gl Cromosoma artificial bacteriano it Bacterial artificial chromosome pl Sztuczny chromosom bakteryjny zh ... more details
The P1 derived artificial chromosome are DNA construct s that are derived from the DNA of P1 phage P1 bacteriophage . They can carry large amounts about 100 300 Kilobase Length measurements kilobases of other sequences for a variety of Biological engineering bioengineering purposes. It is one type of Vector molecular biology vector used to Molecular cloning clone DNA fragments 100 to 300 kb insert size average, 150 kb in Escherichia coli cells. See also Bacterial artificial chromosome Yeast artificial chromosome Human artificial chromosome External links http www.online medical dictionary.org P1 Derived Artificial Chromosome.asp?q P1 Derived Artificial Chromosome Online Medical Dictionary P1 derived artificial chromosome http www.biochem.northwestern.edu holmgren Glossary Definitions Def P P1derived artificial chrom.html P1 derived artificial chromosome PAC definition Nucleic acids DEFAULTSORT P1 Derived Artificial Chromosome Category DNA Category Bacteriophages Category Molecular biology genetics stub biotech stub de P1 Artificial Chromosome fr Chromosome artificiel d riv du phage P1 pl Wektor PAC ... more details
For information about chromosomes in biology chromosome In genetic algorithm s, a chromosome also sometimes called a genome is a set of parameters which define a proposed solution to the problem that the genetic algorithm is trying to solve. The chromosome is often represented as a simple string computer science string , although a wide variety of other data structure s are also used. Chromosome design Unreferenced date November 2009 The article would also benefit from more relevant and clearer examples. The design of the chromosome and its parameters is by necessity specific to the problem to be solved. To give a trivial example, suppose the problem is to find the integer value of math x math between 0 and 255 that provides the maximal result for math f x x 2 math . This isn t the type of problem that is normally solved by a genetic algorithm, since it can be trivially solved using numeric methods. It is only used to serve as a simple example. Our possible solutions are the integers from 0 to 255, which can all be represented as 8 digit binary strings. Thus, we might use an 8 digit binary string as our chromosome. If a given chromosome in the population represents the value 155, its chromosome would be code 10011011 code . A more realistic problem we might wish to solve is the travelling salesman problem . In this problem, we seek an ordered list of cities that results in the shortest trip for the salesman to travel. Suppose there are six cities, which we ll call A, B, C, D, E, and F. A good design for our chromosome might be the ordered list we want to try. An example chromosome we might encounter in the population might be code DFABEC code . The mutation genetic algorithm mutation genetic operator operator and crossover genetic algorithm crossover operator employed by the genetic algorithm must take into account the chromosome s design. DEFAULTSORT Chromosome Genetic Algorithm Category Genetic algorithms ca Cromosoma algorisme gen tic de Genom genetischer Algorithmus ... more details
Unreferenced date December 2009 Chromosome 15q partial deletion is an extremely rare human genetic disorder , caused by a chromosome Chromosomal aberrations chromosomal aberration in which the long q arm of one copy of chromosome 15 is deleted, or partially deleted. If the mother s copy of the chromosomal arm is deleted, Angelman syndrome results. If the father s copy of the chromosomal arm is deleted, Prader Willi syndrome results. The smallest observed region that can result in these syndromes when deleted is therefore called the PWS AS critical region and is situated at 15q11 q13. In addition to deletions, uniparental disomy of chromosome 15 gives rise to the same genetic disorders, indicating that genomic imprinting must occur in this region. See also Chromosome 15q trisomy Genetics Genetic deletion DEFAULTSORT Chromosome 15q Partial Deletion with a huge penis Category Genetic disorders with no OMIM Genetic disorder stub ... more details
The Y Chromosome Consortium YCC is a collection of scientists who work toward the understanding of Y chromosome Human Y chromosome human Y chromosomal phylogenetics and evolution. The consortium has the following objectives web resources that communicate information relating to the non recombinant region of the Y chromosome including new variants and changes in the nomenclature . ref name urlThe Y Chromosome Consortium cite web url http ycc.biosci.arizona.edu title The Y Chromosome Consortium format work accessdate ref The consortium sponsors literature regarding updates in the phylogenetics and wikt nomenclature nomenclature . ref name pmid18385274 cite journal author Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF title New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree journal Genome Res. volume 18 issue 5 pages 830 8 year 2008 month May pmid 18385274 pmc 2336805 doi 10.1101 gr.7172008 url ref ref name pmid11827954 cite journal author title A nomenclature system for the tree of human Y chromosomal binary haplogroups journal Genome Res. volume 12 issue 2 pages 339 48 year 2002 month February pmid 11827954 pmc 155271 doi 10.1101 gr.217602 url last1 Y Chromosome first1 Consortium ref References reflist Category Consortia Category Genes on chromosome Y Category Phylogenetics ... more details
Ring chromosome 20 , ring shaped chromosome 20 or r 20 syndrome is a rare human Chromosome abnormalities chromosome abnormality where the two arms of Chromosome 20 human chromosome 20 fuse to form a ring chromosome . The syndrome is associated with epilepsy epileptic seizures , behaviour disorders and mental retardation. When only one copy of chromosome 20 forms a ring, the individual suffers from ring 20 chromosomal Mosaic genetics mosaicism . Ring Chromosome 20 syndrome is thought to be an underdiagnosed ... for patients with epilepsy, the diagnosis of ring chromosome 20 syndrome is typically delayed or unrecognized ... with ring chromosome 20 syndrome are initially found to have complex partial seizures of frontal ... should be considered for ring 20 chromosome analysis if they have predominantly complex partial seizures ... chromosome and the standard metaphase chromosome analysis has been recommended. A karyotype analysis ... Chromosome 20 Syndrome Rather than the typical linear pattern of a chromosome, deletion of the endings of a chromosome can lead to ring formation. A chromosome has two arms, one long and one short. Deletion of the short arm of chromosome 20 does not appear to result in epilepsy however, terminal ... could be responsible for the manifestation of epilepsy in ring chromosome 20 syndrome. The most common breakpoint in patients is in the q13.33 region of chromosome 20. As chromosomes occur in pairs, the affected individual has one normal chromosome and the other replaced by a ring chromosome. However, this is not the case for every cell in the patient. In most individuals with ring chromosome 20 syndrome, a certain percentage have two normal chromosome 20s and the remainder have one normal and one ring 20 chromosome. This mixture is called mosaicm. A higher degree percentage of mosaicism ... ratio is somewhat limited. Occasionally, there is a variation, where the ring chromosome 20 syndrome is characterized by an extra ring chromosome in addition to the two normal ones and hence ... more details
A human artificial chromosome HAC is a microchromosome that can act as a new chromosome in a population of human cells. That is, instead of 46 chromosomes, the cell could have 47 with the 47th being very small, roughly 6 10 base pair megabases in size, and able to carry new genes introduced by human researchers. Yeast artificial chromosome s and bacterial artificial chromosome s were created before human artificial chromosomes, which first appeared in 1997 in science 1997 . They are useful in expression studies as gene transfer Vector molecular biology vector s and are a tool for elucidating human chromosome function. Grown in HT1080 cells, they are mitosis mitotically and cytogenetics cytogenetically stable for up to six months. History Harrington et. al . first described human artificial chromosomes ref cite pmid 9090378 ref They were first synthesized by combining portions of alpha satellite DNA with telomere telomeric DNA and genomic DNA into linear microchromosomes. Applications In 2011, a refined human artificial chromosome called 21HAC was reported. 21HAC is based on a stripped copy of human chromosome 21, producing a chromosome 5 Mb in length. ref cite pmid 21085194 ref This platform was then used to create integration free pluripotent stem cells from mouse embryonic stem cells. ref cite pmid 21998730 ref See also bacterial artificial chromosome BAC yeast artificial chromosome YAC plasmid cosmid fosmid References references Nucleic acids Category Molecular biology genetics stub biotech stub ca Cromosoma artificial hum es Cromosoma artificial humano fr Chromosome artificiel humain gl Cromosoma artificial humano pl Ludzki sztuczny chromosom zh ... more details
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies. ref cite journal author Taylor AM title Chromosome instability syndromes journal Best Pract Res Clin Haematol year 2001 pages 631 44 volume 14 issue 3 pmid 11640873 doi 10.1053 beha.2001.0158 ref The following chromosome instability syndromes are known Ataxia telangiectasia Ataxia telangiectasia like disorder Bloom syndrome Fanconi anaemia Nijmegen breakage syndrome References reflist DNA replication and repair deficiency disorder Category Chromosome instability syndromes pl Zespo y niestabilno ci chromosomalnych ... more details
Unreferenced date December 2009 Orphan date December 2009 Chromosome 15q trisomy is an extremely rare genetic disorder , caused by a chromosomal aberration in which there is an excess copy of the long q arm of human chromosome 15. The disorder is also known as Distal Duplication 15q and Partial Duplication 15q Syndrome . The disorder is primarily characterized by growth abnormalities, which range from growth retardation to accelerated growth, mental retardation , and distinctive malformations of the head anatomy head and face . Additional abnormalities may involve malformation of the skeleton , vertebral column spine and neck finger s and or toe s genital s particularly in males and, in some cases, heart problems. When accelerated growth is present, it is thought to result from the duplication of the IGF1 receptor gene. See also Chromosome 15q partial deletion Genetics DEFAULTSORT Chromosome 15q Trisomy Category Genetic disorders with no OMIM Genetic disorder stub roa rup Chromosome 15q trisomy ... more details
Image Ring chromosome.gif right thumb 200px Formation of a ring chromosome. Ring chromosome 14 syndrome is a very rare human Chromosome abnormalities chromosome abnormality . It occurs when one or both of the Telomere telomeres that mark the ends of Chromosome 14 human chromosome 14 are lost allowing the now uncapped ends to fuse together forming a Ring chromosome ring chromosome . It causes a number of serious health issues, most notably recurrent treatment resistant Epileptic seizure seizures and intellectual disability ref name AJoMG 2009 cite journal author Zollino M., Seminara L., Orteschi D., Gobbi G., Giovannini S., Della Giustina E., Frattini D., Scarano A., Neri G. title The Ring14 Syndrome Clinical and Molecular Definition year 2009 journal American Journal of Medical Genetics volume 149A issue 6 pages 1116 1124 url http www.ring14.org upload 1282121818 1.pdf ref . Cause The syndrome is caused by the Deletion genetics loss of genetic material near the end of the long arm q of chromosome 14 . The break that causes the telomere s to be lost almost never occurs exactly at the end of the chromosome. Instead, it occurs further up and several critical genes near the end of the chromosome are lost. Ring chromosome 14 syndrome is almost never inherited. The genetic abnormality occurs randomly in sperm or egg cells or it may occur in early embryonic growth. If it occurs during embryonic growth the ring chromosome may be present in only some of a person s cells i.e. Mosaic genetics Mosaicism . Symptoms The most common symptoms are intellectual disability and recurrent Epileptic seizure seizures developing in infancy or early childhood. Typically the seizures are resistant to treatment with anti epileptic drugs. Many individuals exhibit slow growth, being smaller and shorter ... of the possibility that not all cells carry the ring chromosome the karyotype analysis should examine a sufficient number of cells. Epidemiology Ring chromosome 14 syndrome is extremely rare. The true ... more details
image Chromosome 16.svg 125px right Chromosome 16 is one of the 23 pairs of chromosome s in human s. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pair s the building material of DNA and represents just under 3 of the total DNA in cell biology cells . Identifying gene s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 16 probably contains between 850 and 1,200 genes. In February 2010, a new cause of obesity due to a microdeletion on chromosome 16 was announced. It may explain about 1 of obesity cases. This research was carried out by Professor Froguel, a CNRS researcher, in Lille, and others at Imperial College in London and Vaudois University and was published in Nature on February 4, 2010. This defect was identified using DNA microarrays and it leads to the suppression of about thirty genes in one region of chromosome 16. Research showed that this microdeletion is relatively common in obese people but lacking in most non obese people. Diseases and Disorders Trisomy 16 Familial Mediterranean fever FMF Crohn s disease Thalassemia Autosomal dominant polycystic kidney disease PKD 1 Autism Schizophrenia ref http www.sciencedaily.com releases 2009 10 091025162454.htm ref External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part del16p11 2 GeneReview NCBI NIH UW entry on 16p11.2 Deletion Syndrome References reflist cite journal author Gilbert F title Disease genes and chromosomes disease maps of the human genome. Chromosome 16 journal Genet Test year 1999 pages 243 ... rich human chromosome 16 journal Nature year 2004 pages 988 94 volume 432 issue 7020 pmid ... Chromosome 16 Human Category Chromosomes genetics stub ca Cromosoma 16 de Chromosom 16 Mensch es Cromosoma 16 humano fr Chromosome 16 humain it Cromosoma 16 umano hu Hum n 16 os kromosz ma nl Chromosoom ... more details
Image chromosome 2.svg 125px right Chromosome 2 is one of the 23 pairs of chromosome s in human s. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome ... chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome ... vega.sanger.ac.uk Homo sapiens mapview?chr 2 Vega Homo sapiens Overview of Chromosome 2 Bot generated ... of the Chromosome 2 fusion site Genes of the Chromosome 2 fusion site in chimpanzees All members of Hominidae ... chromosome 2 is widely accepted to be a result of an end to end fusion of two ancestral chromosomes. ref name fusion http www.evolutionpages.com chromosome 2.htm Human Chromosome 2 is a fusion of two ... x WAHpC0Ah0 Evidence of Common Ancestry Human Chromosome 2 video 2007 ref Image Chromosome2 merge.png ... centromere The evidence for this includes The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the chimpanzee , has near identical DNA sequences to human chromosome ... structure vestigial centromere . Normally a chromosome has just one centromere, but in chromosome ... Evidence for an ancestral alphoid domain on the long arm of human chromosome 2 journal Human Genetics ... of vestigial telomere s. These are normally found only at the ends of a chromosome, but in chromosome ... author IJdo title Origin of human chromosome 2 an ancestral telomere telomere fusion journal Proceedings ... RA issue 20 pmc 52649 display authors 1 ref Chromosome 2 presents very strong evidence in favour ... the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2. ref name telomeres Genes Among the genes located on chromosome 2 are these AGXT alanine glyoxylate aminotransferase ... peroxidase Genes located on the short arm of this chromosome include ALMS1 ABCG5 and ABCG8 ATP binding ... arm of this chromosome include ABCA12 ATP binding cassette, sub family A ABC1 , member 12 ... more details
image Chromosome 9.svg 125px right Chromosome 9 is one of the 23 pairs of chromosome s in human s. People normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 145 million base pair s of nucleic acids the building blocks of DNA and represents between 4 and 4.5 percent of the total DNA in cell biology cells . Identifying gene s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 9 likely contains between 800 and 1,200 genes. Genes The following are some of the genes located on chromosome 9 ABO blood group system ABO ABO histo blood group glycosyltransferases ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ALAD aminolevulinate, delta , dehydratase ALS4 amyotrophic lateral sclerosis 4 ASS gene ASS argininosuccinate synthetase CCL21 chemokine C C motif ligand 21, SCYA21 CCL27 chemokine C C motif ligand 27, SCYA27 COL5A1 collagen, type V, alpha 1 ENG gene ENG endoglin Osler Rendu Weber syndrome 1 FXN frataxin GALT gene GALT galactose 1 phosphate uridylyltransferase GLE1L Nucleoporin GLE1 GRHPR glyoxylate redasductase hydroxypyruvate reductase IKBKAP inhibitor of kappa ... t Diseases & disorders The following diseases are some of those related to genes on chromosome 9 acytosiosis ... of the human genome. Chromosome 9 journal Genet Test year 2001 pages 157 74 volume 5 issue 2 pmid ... of human chromosome 9 journal Nature year 2004 pages 369 74 volume 429 issue 6990 pmid 15164053 ... B title Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Chromosome ... title The assignment the lethal congenital contracture syndrome LCCS locus to chromosome 9q33 34 journal ... Chromosomes Category Chromosomes Chromosome 09 ca Cromosoma 9 de Chromosom 9 Mensch es Cromosoma 9 humano fr Chromosome 9 humain it Cromosoma 9 umano hu Hum n 9 es kromosz ma nl Chromosoom 9 no Kromosom ... more details
Image Chromosome 20.svg 125px right Chromosome 20 is one of the 23 pairs of chromosome s in human s. People normally have two copies of this chromosome. Chromosome 20 spans around 63 million base pair s the building material of DNA and represents between 2 and 2.5 percent of the total DNA in cell biology cells . Chromosome 20 was fully sequenced in 2001 and contained 59,187,298 base pairs representing 99.4 of the euchromatic DNA. ref name Deloukas2001 cite journal author Deloukas P, et al. title The DNA sequence and comparative analysis of human chromosome 20 journal Nature year 2001 pages 865 871 volume 414 issue 6866 pmid 11780052 doi 10.1038 414865a ref Identifying gene s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Citation needed date April 2009 Chromosome 20 contains over 900 genes. New discoveries When date February 2011 have recently linked this chromosome to the increasing susceptibility to male pattern baldness. Citation needed date April 2009 Genes The following are some of the genes located on chromosome 20 Adenosylhomocysteinase AHCY S adenosylhomocysteine hydrolase ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 brefeldin A inhibited Bone morphogenetic protein 2 BMP2 Bone Morphogenetic Protein 2 osteoblast differentiation DNAJC5 Cysteine string protein EDN3 endothelin 3 Glutathione synthetase GSS glutathione synthetase Gs alpha subunit GNAS1 Gs alpha subunit membrane G protein JAG1 jagged 1 Alagille ... of those related to genes on chromosome 20 ref name Gilbert1997 cite journal author Gilbert F ...,loc&LINKS ON&VERBOSE ON&CHR 20 Human Chromosome 20 Map Viewer &mdash on NCBI Chromosomes DEFAULTSORT Chromosome 20 Human Category Chromosomes genetics stub bg 20 ca Cromosoma 20 de Chromosom 20 Mensch et 20. kromosoom es Cromosoma 20 humano fr Chromosome 20 humain gl Cromosoma 20 ... more details
Y chromosome microdeletion YCM is a family of genetic disorder s caused by missing gene s in the Y chromosome . Many men with YCM exhibit no symptoms and lead normal lives. However, YCM is also known to be present in a significant number of men with reduced fertility . ref Carlo Foresta, et al. http edrv.endojournals.org cgi content full 22 2 226 Y chromosome microdeletions and alterations of spermatogenesis ... of mutation is not different for Y chromosome microdeletion. However, the ability to repair it differs from other chromosomes. The human Y chromosome is passed directly from father to son, and is not protected ... repair mechanism for the Y chromosome. Diagnosis Y chromosome microdeletion is currently ... 300 known genetic marker s for sequence tagged site s STS on the Y chromosome, and then using polymerase ... of a tiny part of the overall 23 million base pair long Y chromosome, therefore the sensitivity ... only discover certain types of deletions and mutations on a chromosome and give therefore no complete ..., but not the absence of any possible genetic defect on the chromosome. The gold standard test for genetic mutation, namely complete DNA sequencing of a patient s Y chromosome, is still far too expensive ... chromosome have been found at a much higher rate in infertile men than in fertile controls ref name pmid16157049 cite journal author Song NH, Wu HF, Zhang W, et al. title Screening for Y chromosome ... testing techniques for the Y chromosome are developed. Much study has been focused upon the azoospermia ... Additional genes associated with spermatogenesis in men and reduced fertility upon Y chromosome deletions ... Acta Med Port year 1998 month April volume 11 issue 4 pages 365 72 title Y chromosome and male infertility ... NCBI NIH UW entry on Y Chromosome Infertility http cas.bellarmine.edu tietjen Ecology y chromosome as a battle ground .htm Bellarmine College The Y chromosome as a battle ground for sexual selection See also Infertility AZF1 Category Andrology Category Sex chromosome aneuploidies genetics stub disease ... more details
image Chromosome 15.jpeg right frame Human chromosome 15 Chromosome 15 is one of the 23 pairs of chromosome s in human s. People normally have two copies of this chromosome. Chromosome 15 spans about 106 ... in cell biology cells . Identifying gene s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 15 likely contains between 700 and 900 genes. Genes The following are some of the genes located on chromosome 15 CAPN3 Calpain 3 limb girdle muscular dystrophy ... are caused by mutations in chromosome 15. Two of the conditions Angelman syndrome and Prader Willi syndrome involve a loss of gene activity in the same part of chromosome 15, the 15q11 q13 region ... of DNA on human chromosome 15 could lead to two different syndromes depending on whether the deletion ... of gene activity in a specific part of chromosome 15, the 15q11 q13 region. This region contains ... in the maternal copy of chromosome 15. This chromosomal change deletes the region of chromosome ... the paternal copy is normally inactive in the brain, a deletion in the maternal chromosome 15 ... September 2009 Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 ... with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited ... the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. In a small ... Prader Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11 q13 region. People normally have two copies of this chromosome in each cell, one ... the 15q11 q13 region of the paternal chromosome 15 is deleted. The genes in this region are normally active on the paternal copy of the chromosome and are inactive on the maternal copy. Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. In about ... more details
Image Chromosome 1.svg thumb Map of Chromosome 1 alt Map of Chromosome 1 125px right Chromosome 1 is the designation for the largest human chromosome . Humans have two copies of chromosome 1, as they do with all of the autosome s, which are the non sex chromosome s. Chromosome 1 spans about 249 million ... Homo sapiens mapview?chr 1 Chromosome size and number of genes derived from this database ... annotation of human chromosome 1 journal Nature volume 441 issue 7091 pages 315 21 year 2006 month May pmid 16710414 doi 10.1038 nature04727 ref Identifying gene s on each chromosome is an active area of genetics genetic research . Chromosome 1 is currently thought to have 4,316 genes, exceeding previous predictions based on its size. ref name vega It was the last completed chromosome, sequenced ... Genes The following are some of the genes located on chromosome 1 p arm Image Chromarms.gif thumb Short ... recessive, mild According to http www.ornl.gov sci techresources Human Genome posters chromosome chromo01.shtml the Chromosome 1 contains 263 million base pairs Diseases & disorders There are 890 known diseases related to this chromosome. Some of these diseases are deafness, Alzheimer disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many ... diseases are some of those related to genes on chromosome 1 which contains the most known genetic disease s of any human chromosome 1q21.1 deletion syndrome 1q21.1 duplication syndrome Alzheimer disease ..., O Brien SJ, Stanyon R title The Origin of Human Chromosome 1 and Its Homologs in Placental Mammals ... chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September 3 October 2000 journal Cytogenet Cell ... Institutes of Health title Chromosome 1 work Genetics Home Reference url http ghr.nlm.nih.gov chromosome 1 accessdate May 17, 2006 http today.reuters.com news newsArticle.aspx?type scienceNews&storyID ... 4994088.stm Final genome chapter published BBC NEWS Chromosomes DEFAULTSORT Chromosome 1 Human ... more details
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