Characterization ofSCML1,a New Gene in Xp22, with Homology to Developmental Polycomb Genes
1998; Elsevier BV; Volume: 49; Issue: 1 Linguagem: Inglês
10.1006/geno.1998.5224
ISSN1089-8646
AutoresEsther van de Vosse, Susannah M. Walpole, Alexia Nicolaou, Paola van der Bent, Anthony Cahn, Mark D. Vaudin, Mark T. Ross, Jillian Durham, Rebecca Pavitt, Jane Wilkinson, Darren Grafham, Arthur A. Bergen, Gert‐Jan B. van Ommen, John R.W. Yates, Johan T. den Dunnen, Dorothy Trump,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoUsing exon trapping, we have identified a new human gene in Xp22 encoding a 3-kb mRNA. Expression of this RNA is detectable in a range of tissues but is most pronounced in skeletal muscle and heart. The gene, designated “sex comb on midleg-like-1” (SCML1), maps 14 kb centromeric of marker DXS418, between DXS418 and DXS7994, and is transcribed from telomere to centromere.SCML1spans 18 kb of genomic DNA, consists of six exons, and has a 624-bp open reading frame. The predicted 27-kDaSCML1protein contains two domains that each have a high homology to twoDrosophilatranscriptional repressors of the polycomb group (PcG) genes and their homologues in mouse and human. PcG genes are known to be involved in the regulation of homeotic genes, and the mammalian homologues of the PcG genes repress the expression ofHoxgenes.SCML1appears to be a new human member of this gene group and may play an important role in the control of embryonal development.
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