Infobox Disease Name Uniparentaldisomy Image Caption DiseasesDB ICD10 ICD10 Q 99 8 q 90 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D024182 Uniparentaldisomy UPD occurs when a person receives two copies of a chromosome , or part of a chromosome, from one parent and no copies from the other parent. ref name pmid10797485 cite journal author Robinson WP title Mechanisms leading to uniparentaldisomy and their clinical consequences journal Bioessays volume 22 issue 5 pages 452 9 year 2000 month May pmid 10797485 doi 10.1002 SICI 1521 1878 200005 22 5 452 AID BIES7 3.0.CO 2 K ref . UPD could involve isodisomy meiosis II error or heterodisomy meiosis I error ref cite book title Human Molecular Genetics 3 publisher Garland Science isbn 0 8153 4183 0 pages 58 ref . Pathophysiology UPD can occur as a random event during the formation of Ovum egg or sperm cells or may happen in early fetus fetal development. It can also occur during trisomic rescue . When the child receives two different homologous chromosomes inherited from both grandparents from one parent, this is called an heterodisomic UPD. Heterodisomy heterozygous indicates a Meiosis Meiosis I meiosis I error. When ... of Human Genetics title Uniparentaldisomy as a mechanism for human genetic disease volume 42 issue ... links http www.medgen.ubc.ca robinsonlab mosaic.htm Uniparentaldisomy University of British Columbia ... of Medicine Chromosomal abnormalities Category Cytogenetics roa rup Uniparentaldisomy of 6 ca Heterodisomia ... of the uniparental chromosome isodisomy , leading to the manifestation of rare recessive disorders ... is a Genetic carrier carrier . Uniparental Biological inheritance inheritance of Imprinting genetics ... identified, uniparental inheritance of an imprinted gene can result in the loss of gene function which ... ref ref DiseasesDB2 32320 ref All chromosomes Uniparental diploidy Occasionally, all chromosomes ... jednorodzicielska pt Dissomia uniparental th ... more details
Uniparental inheritance is a non mendelian form of inheritance that consists of the transmission of genotypes from one parental type to all progeny. That is, all the genes in offspring will originate from only the mother or only the father. This phenomenon is most commonly observed in eukaryotic organelles such as mitochondria and chloroplast s. This is because such organelles contain their own DNA and are capable of independent mitotic replication that does not endure crossing over with the DNA from another parental type. Although uniparental inheritance is the most common form of inheritance in organelles, there is increased evidence of diversity. Some studies found doubly uniparental inheritance DUI and biparental transmission to exist in cells. Evidence suggests that even when there is biparental inheritance, crossing over doesn t always occur. Furthermore, there is evidence that the form of organelle inheritance varied frequently over time. Uniparental inheritance can be divided into multiple subtypes based on the pathway of inheritance. ref name article.pubs.nrc cnrc.gc.ca http article.pubs.nrc cnrc.gc.ca RPAS rpv?hm HInit&afpf g05 082.pdf&journal gen&volume 48 ref ref http www.pnas.org content 92 25 11331.full.pdf ref Examples Organelles seealso mitochondrial genome Although most of the eukaryotic sub cellular parts do not have their own DNA or are capable of replication independent of the nucleus, there are some exceptions such as mitochondria and chloroplasts. Not only are these organelles capable of independent DNA replication, translation, and transcription, they are commonly ... Carl Correns main History of genetics Like all other genetic concepts, the discovery of uniparental ..., transcription, and replication independent of the nucleus. Soon after, the discoveries of uniparental and doubly uniparental inheritance came. ref name article.pubs.nrc cnrc.gc.ca See also Non Mendelian ... Organelles References reflist DEFAULTSORT Uniparental Inheritance Category Genetics ... more details
Trisomic rescue also known as trisomy rescue or trisomy zygote rescue a genetic phenomenon in which a fertilized ovum containing three copies of a chromosome loses one of these chromosomes to form a normal, diploid chromosome complement. If both of the retained chromosomes came from the same parent, then uniparental disomy results. References http ghr.nlm.nih.gov ghr glossary trisomyrescue Biology stub Category Cytogenetics ko ... more details
UPD may refer to Underpotential deposition Union for Development Uni o para o Desenvolvimento a political party in Macao Union for Peace and Development Union, Progress and Democracy , a political party in Spain Uniparental disomy The Citrix Universal Print Driver Urban planned development , a governmental designation for an urban village style Comprehensive planning master planned development MPD ref cite web url https www.kingcounty.gov property permits codes growth CompPlan media property permits documents GrowthManagement CompPlan2008 Chap10 CommunityPlans adopted08.ashx year 2008 accessdate 2010 04 12 title Community Plans publisher King County, Washington ref University of the Philippines Diliman , the flagship university of the University of the Philippines System references disambig de UPD ... 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
are acquired uniparentaldisomy UPD or gene conversion. In UPD, a person receives two copies of a chromosome ... CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparentaldisomy detected by SNP ... LOH.jpg thumb Copy neutral LOH uniparentaldisomy Image CRCforwiki.jpg thumb SNP array Virtual ... more details
Infobox Disease Name Cartilage hair hypoplasia Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 250250 MedlinePlus eMedicineSubj eMedicineTopic MeshID Cartilage hair hypoplasia CHH , also known as McKusick type metaphyseal chondrodysplasia , ref name Andrews James, William Berger, Timothy Elston, Dirk 2005 . Andrews Diseases of the Skin Clinical Dermatology . 10th ed. . Saunders. ISBN 0 7216 2921 0. ref rp 578 is a rare form of short limbed dwarfism due to skeletal dysplasia . It was first reported in 1965 by McKusick et al. Actor Verne Troyer is affected with this form of dwarfism, ref cite journal author McKusick VA, Eldridge R, Hosteler JA, Ruangwit U, Egeland JA title Dwarfism In The Amish. II. Cartilage hair hypoplasia journal Bull Johns Hopkins Hosp year 1965 pages 285 326 volume 116 pmid 14284412 ref as was actor Billy Barty , who was renowned for saying The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy. ref cite news first Paul last Chavez coauthors authorlink title The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy date 2000 12 24 publisher url http abcnews.go.com Entertainment story?id 111722&page 1 work ABC News pages accessdate 2010 01 26 language ref Genetics CHH is an autosomal recessive ref name chhud cite journal author Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la Chapelle A, Kaitila L title Uniparental disomy in cartilage hair hypoplasia journal Eur J Hum Genet. volume 5 issue 1 pages 35 42 year 1997 pmid 9156319 ref inherited disorder. A rarely encountered genetic phenomenon, known as uniparental disomy a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent has also been observed with the disorder. ref name chhud Image autorecessive.svg thumb right Cartilage hair hypoplasia has an autosomal recessive pattern of inheritance . An association between mutations ... more details
or development due to the effects of uniparentaldisomy. Intrauterine growth retardation IUGR ... Uniparentaldisomy in humans development of an imprinting map and its implications for prenatal diagnosis ... author Los FJ, van Opstal D, van den Berg C, et al. title Uniparentaldisomy with and without confined ... PD317 3.0.CO 2 K Cite journal author Robinson WP title Mechanisms leading to uniparentaldisomy and their clinical ... for uniparentaldisomy in early fetal losses the results and a review of the literature journal American ... Prospective prenatal investigations on potential uniparentaldisomy in cases of confined placental ... more details
instead of one copy from each parent. This phenomenon is called paternal uniparentaldisomy UPD . People ... cell instead of one copy from each parent. This phenomenon is called maternal uniparentaldisomy. Because ... and maternal disomy journal Pediatrics year 2004 pages 565 573 volume 113 issue 3 Pt 1 pmid 14993551 ... more details
image Chromosome 14.jpeg right Chromosome14 is one of the 23 pairs of chromosome s in human s. People normally have two copies of this chromosome. Chromosome 14 spans about 109 million base pair s the building material of DNA and represents between 3 and 3.5 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 14 likely contains between 700 and 1,300 genes. Genes The following are some of the genes located on chromosome 14 COCH coagulation factor C homolog, cochlin Limulus polyphemus GALC galactosylceramidase Krabbe disease GCH1 GTP cyclohydrolase 1 dopa responsive dystonia IGH antibody immunoglobulin heavy chain locus IFT43 intraflagellar transport 43 NPC2 Niemann Pick disease, type C2 PSEN1 presenilin 1 Alzheimer disease 3 SERPINA1 serpin peptidase inhibitor, clade A alpha 1 antiproteinase, antitrypsin , member 1 TSHR thyroid stimulating hormone receptor Diseases & disorders The following diseases are some of those related to genes on chromosome 14 alpha 1 antitrypsin deficiency Alzheimer disease Alzheimer disease, type 3 congenital hypothyroidism dopamine responsive dystonia Krabbe disease Machado Joseph disease multiple myeloma Niemann Pick disease nonsyndromic deafness nonsyndromic deafness, autosomal dominant Sensenbrenner syndrome tetrahydrobiopterin deficiency Uniparental disomy UPD 14 References cite journal author Campo E title Genetic and molecular genetic studies in the diagnosis of B cell lymphomas I mantle cell lymphoma, follicular lymphoma, and Burkitt s lymphoma journal Hum Pathol year 2003 pages 330 5 volume 34 issue 4 pmid 12733111 doi 10.1053 hupa.2003.97 cite journal author Gilbert F title Disease genes and chromosomes disease maps of the human genome. Chromosome 14 journal Genet Test year 1999 pages 379 91 volume 3 issue 4 pmid 10627948 ci ... more details
PBB geneid 55384 MEG3 maternally expressed 3 is a maternally expressed, Genomic imprinting imprinted long non coding RNA gene . ref name entrez cite web title Entrez Gene MEG3 maternally expressed 3 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 55384 accessdate ref At least 12 different isoforms of MEG3 are generated by alternative splicing . ref name pmid20032057 cite journal author Zhang X, Rice K, Wang Y, et al. title Maternally expressed gene 3 MEG3 noncoding ribonucleic acid isoform structure, expression, and functions journal Endocrinology volume 151 issue 3 pages 939 47 year 2010 month March pmid 20032057 doi 10.1210 en.2009 0657 url pmc 2840681 ref Expression of MEG3 is lost in cancer cells. ref name pmid20032057 ref name pmid14602737 cite journal author Zhang X, Zhou Y, Mehta KR, et al. title A pituitary derived MEG3 isoform functions as a growth suppressor in tumor cells journal J. Clin. Endocrinol. Metab. volume 88 issue 11 pages 5119 26 year 2003 month November pmid 14602737 doi 10.1210 jc.2003 030222 url ref It acts as a growth suppressor in tumour cells, and activates p53 . ref name pmid14602737 ref name pmid17569660 cite journal author Zhou Y, Zhong Y, Wang Y, et al. title Activation of p53 by MEG3 non coding RNA journal J. Biol. Chem. volume 282 issue 34 pages 24731 42 year 2007 month August pmid 17569660 doi 10.1074 jbc.M702029200 url ref A pituitary transcript variant has been associated with inhibited cell proliferation . Studies in mouse and sheep suggest that an upstream intergenic differentially methylated region regulates imprinting of the region. The expression profile in mouse of the co regulated Meg3 and DLK1 Dlk1 genes suggests a causative role in the pathologies found in uniparental disomy animals, characterized by defects in skeletal muscle maturation, bone formation, placenta size and organization and prenatal lethality. The sheep Homology biology homolog is associated with the Glossary of sheep husb ... more details
by SNP array virtual karyotype. Loss of heterozygosity LOH , Autozygous segments, and uniparentaldisomy Autozygous segments and uniparentaldisomy UPD are diploid copy neutral genetic findings ... pmid 18760389 pmc 2556426 ref UniparentalDisomy UPD occurs when both copies of a gene or genomic region are inherited from the same parent. This is uniparental, in contrast to autozygous segments ... 6 . Image Copy neutral LOH.jpg thumb Fig 6. Copy neutral LOH uniparentaldisomy Acquired UPD is quite ... missed by the standard FISH probes and acquired uniparentaldisomy at key loci for prognostic ... Copy neutral LOH acquired uniparentaldisomy has been reported at key loci in ALL, such as CDKN2A ... first5 KS last6 MacIejewski first6 JP title Chromosomal lesions and uniparentaldisomy detected ... JP. author separator , author name separator year 2008 month Feb title Chromosomal lesions and uniparentaldisomy detected by SNP arrays in MDS, MDS MPD, and MDS derived AML url journal Blood volume ... more details
Orphan date February 2009 PBB geneid 4232 Mesoderm specific transcript homolog protein is a protein that in humans is encoded by the MEST gene . ref name pmid8884280 cite journal author Nishita Y, Yoshida I, Sado T, Takagi N title Genomic imprinting and chromosomal localization of the human MEST gene journal Genomics volume 36 issue 3 pages 539 42 year 1997 month Feb pmid 8884280 pmc doi 10.1006 geno.1996.0502 ref ref name entrez cite web title Entrez Gene MEST mesoderm specific transcript homolog mouse url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 4232 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text This gene encodes a member of the alpha beta hydrolase fold family and has isoform specific imprinting. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Three transcript variants encoding two distinct isoforms have been identified for this gene. A pseudogene for this locus is located on chromosome 6. ref name entrez References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Kobayashi S, Kohda T, Miyoshi N, et al. title Human PEG1 MEST, an imprinted gene on chromosome 7 journal Hum. Mol. Genet. volume 6 issue 5 pages 781 6 year 1997 pmid 9158153 doi 10.1093 hmg 6.5.781 cite journal author Riesewijk AM, Hu L, Schulz U, et al. title Monoallelic expression of human PEG1 MEST is paralleled by parent specific methylation in fetuses journal Genomics volume 42 issue 2 pages 236 44 year 1997 pmid 9192843 doi 10.1006 geno.1997.4731 cite journal author Cuisset L, Le Stunff C, Dupont JM, et al. title PEG1 expression in maternal uniparental disomy 7 journal Ann. Genet. volume 40 issue 4 pages 211 5 year 1998 pmid 9526615 doi cite journal author Riesewijk AM, Blagitko N, Sc ... more details
Infobox disease Name Silver Russell syndrome Image Caption DiseasesDB 11748 ICD10 ICD10 Q 87 1 q 80 ILDS Q87.114 ICD9 ICD9 759.89 ICDO OMIM 180860 MedlinePlus 001209 eMedicineSubj ped eMedicineTopic 2099 MeshID Silver Russell dwarfism , also called Silver Russell syndrome SRS or Russell Silver syndrome RSS is a growth disorder occurring in approximately 1 50,000 to 1 100,000 births. In the United States it is usually referred to as Russell Silver Syndrome, and Silver Russell Syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable in some cases. There is no statistical significance of the syndrome occurring in males or females. Etiology Its exact cause is unknown, but present research points toward a genetic component, possibly following maternal genes. It involves hypomethylation of H19 gene H19 and IGF2 . ref name pmid19066168 cite journal author Bartholdi D, Krajewska Walasek M, Ounap K, et al. title Epigenetic mutations of the imprinted IGF2 H19 domain in Silver Russell syndrome SRS results from a large cohort of patients with SRS and SRS like phenotypes journal J. Med. Genet. volume 46 issue 3 pages 192 7 year 2009 month March pmid 19066168 doi 10.1136 jmg.2008.061820 url http jmg.bmj.com cgi pmidlookup?view long&pmid 19066168 ref Diagnosis Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. The syndrome is usually caused by a maternal uniparental disomy UPD on chromosome 7, in 10 of the cases, which is an imprinting error where the person receives two copies of chromosome 7 from the mother maternally inherited . As a syndrome a diagnosis is typically given for children upon confirmation of the presence of several symptoms listed below. ref name patient cite web url http www.patient.co.uk showdoc 40001427 title Russell Silver Syndrome format work patien ... more details
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