SciELO - Scientific Electronic Library Online

 
vol.34 issue2Nitric oxide and carotid body chemoreceptionTargeting and fusion proteins during mammalian spermiogenesis author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Biological Research

Print version ISSN 0716-9760

Abstract

REPETTO, GABRIELA M.. Genomic imprinting and human chromosome 15. Biol. Res. [online]. 2001, vol.34, n.2, pp.141-145. ISSN 0716-9760.  http://dx.doi.org/10.4067/S0716-97602001000200020.

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.

Keywords : chromosome 15; chromosome 15 deletions/duplications; genomic imprinting.

        · text in English

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License