Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein

Human Genetics
A EgeoP Scartezzini

Abstract

Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pathogenesis of CHD in DS. In an effort to contribute to the construction of a transcriptional map of the DS CHD region we have performed direct cDNA selection using a YAC contig that maps between ETS2 and D21S15 and cDNAs synthesised from fetal heart structures. Here we describe the identification and characterization of a new gene, WRB, that maps to 21q22.3 between ACTL5 and HMG 14 and appears to be widely expressed in adult and fetal tissues. The new gene encodes a basic protein of unknown function containing a tryptophan-rich carboxyl-terminal region and a potential nuclear localization signal. Immunofluorescence analysis shows a predominant localization in the cell nucleus. The understanding of the biological function of the protein product should clarify the potential role of WRB in the pathogenesis of DS CHD.

Citations

Apr 3, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·G M BarlowJ R Korenberg
Jul 22, 2009·Pigment Cell & Melanoma Research·Richard A Sturm, Mats Larsson
Mar 30, 2011·Journal of Cell Science·Fabio VilardiBernhard Dobberstein
Sep 17, 2015·Human Molecular Genetics·Xiaoling JiangY Eugene Yu
Dec 22, 2016·Scientific Reports·Jhon Rivera-MonroyFabio Vilardi
Dec 14, 2004·American Journal of Physiology. Heart and Circulatory Physiology·Qingwei WangQing Song
Aug 12, 2018·Investigative Ophthalmology & Visual Science·Sherin ShaabanElizabeth C Engle
Aug 20, 2015·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Cheng-Yao ChiangNan-Haw Chow

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