Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes.

Autor: van de Vosse E; MGC-Department of Human Genetics, Leiden University, Al Leiden, The Netherlands., Walpole SM, Nicolaou A, van der Bent P, Cahn A, Vaudin M, Ross MT, Durham J, Pavitt R, Wilkinson J, Grafham D, Bergen AA, van Ommen GJ, Yates JR, den Dunnen JT, Trump D
Jazyk: angličtina
Zdroj: Genomics [Genomics] 1998 Apr 01; Vol. 49 (1), pp. 96-102.
DOI: 10.1006/geno.1998.5224
Abstrakt: Using 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. SCML1 spans 18 kb of genomic DNA, consists of six exons, and has a 624-bp open reading frame. The predicted 27-kDa SCML1 protein contains two domains that each have a high homology to two Drosophila transcriptional 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 of Hox genes. SCML1 appears to be a new human member of this gene group and may play an important role in the control of embryonal development.
Databáze: MEDLINE