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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1993-6-17
|
| pubmed:abstractText |
Although Angelman (AS) and Prader-Willi (PWS) syndromes are human genetic disorders with distinctly different developmental and neurobehavioural phenotypes, they both have abnormalities in inheritance of chromosome 15q11-q13. Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a genetic locus from only one parent) for 15q11-q13. Normal development requires a genetic contribution for this genetic region from both a male and a female parent. The dependence on parental origin implies that genes in human 15q11-q13 have distinct functions depending upon epigenetic, parent-of-origin differences, known as genomic imprinting. Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss phenotype-genotype correlations using candidate genes and mouse models, in particular for hypopigmentation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
46
|
| pubmed:geneSymbol |
GABRB3
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
16-25
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:8388169-Angelman Syndrome,
pubmed-meshheading:8388169-Animals,
pubmed-meshheading:8388169-Chromosome Deletion,
pubmed-meshheading:8388169-Chromosome Mapping,
pubmed-meshheading:8388169-Chromosomes, Human, Pair 15,
pubmed-meshheading:8388169-Disease Models, Animal,
pubmed-meshheading:8388169-Fathers,
pubmed-meshheading:8388169-Female,
pubmed-meshheading:8388169-Gene Expression Regulation,
pubmed-meshheading:8388169-Genotype,
pubmed-meshheading:8388169-Humans,
pubmed-meshheading:8388169-Hypopigmentation,
pubmed-meshheading:8388169-Male,
pubmed-meshheading:8388169-Mice,
pubmed-meshheading:8388169-Mothers,
pubmed-meshheading:8388169-Phenotype,
pubmed-meshheading:8388169-Prader-Willi Syndrome,
pubmed-meshheading:8388169-Receptors, GABA-A,
pubmed-meshheading:8388169-Translocation, Genetic
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.
|
| pubmed:affiliation |
Department of Neuroscience, University of Florida College of Medicine, Gainesville 32610.
|
| pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
|