Genomic imprinting and human chromosome 15

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...

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Autor principal:	REPETTO,GABRIELA M.
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2001
Materias:	chromosome 15 chromosome 15 deletions/duplications genomic imprinting
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000200020
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spelling	oai:scielo:S0716-976020010002000202002-01-02Genomic imprinting and human chromosome 15REPETTO,GABRIELA M. chromosome 15 chromosome 15 deletions/duplications genomic imprinting 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.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.34 n.2 20012001-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000200020en10.4067/S0716-97602001000200020
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	chromosome 15 chromosome 15 deletions/duplications genomic imprinting
spellingShingle	chromosome 15 chromosome 15 deletions/duplications genomic imprinting REPETTO,GABRIELA M. Genomic imprinting and human chromosome 15
description	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.
author	REPETTO,GABRIELA M.
author_facet	REPETTO,GABRIELA M.
author_sort	REPETTO,GABRIELA M.
title	Genomic imprinting and human chromosome 15
title_short	Genomic imprinting and human chromosome 15
title_full	Genomic imprinting and human chromosome 15
title_fullStr	Genomic imprinting and human chromosome 15
title_full_unstemmed	Genomic imprinting and human chromosome 15
title_sort	genomic imprinting and human chromosome 15
publisher	Sociedad de Biología de Chile
publishDate	2001
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602001000200020
work_keys_str_mv	AT repettogabrielam genomicimprintingandhumanchromosome15
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Genomic imprinting and human chromosome 15

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