Genomic imprinting and human chromosome 15
Biol. Res
;
34(2): 141-145, 2001.
Article
in English
| LILACS
| ID: lil-303016
ABSTRACT
Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin. The best characterized human disorders resulting from an alteration of the imprinting process are Angelman and Prader-Willi syndromes. They are due to the lack of active maternal or paternal genes, respectively, from chromosome region 15q11q13. Most cases arise via interstitial deletions. We review evidence that other common cytogenetic alterations of this region, interstitial and supernumerary duplications, could be the reciprocal products of the deletions and are also affected by the imprinting phenomenon, given the predominance of maternally-derived duplications in patients ascertained due to developmental delays or autistic features.
Full text:
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Index:
LILACS (Americas)
Main subject:
Prader-Willi Syndrome
/
Chromosomes, Human, Pair 15
/
Angelman Syndrome
/
Genomic Imprinting
Limits:
Humans
Language:
English
Journal:
Biol. Res
Journal subject:
Biology
Year:
2001
Type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Pontifícia Universidad de Chile/CL
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