title: Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes.
abstract: 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.
authors.affiliation: MGC-Department of Human Genetics, Leiden University, Al Leiden, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: van de Vosse
authors.forename: S M
authors.initials: SM
authors.lastname: Walpole
authors.forename: A
authors.initials: A
authors.lastname: Nicolaou
authors.forename: P
authors.initials: P
authors.lastname: van der Bent
authors.forename: A
authors.initials: A
authors.lastname: Cahn
authors.forename: M
authors.initials: M
authors.lastname: Vaudin
authors.forename: M T
authors.initials: MT
authors.lastname: Ross
authors.forename: J
authors.initials: J
authors.lastname: Durham
authors.forename: R
authors.initials: R
authors.lastname: Pavitt
authors.forename: J
authors.initials: J
authors.lastname: Wilkinson
authors.forename: D
authors.initials: D
authors.lastname: Grafham
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: J R
authors.initials: JR
authors.lastname: Yates
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: D
authors.initials: D
authors.lastname: Trump
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary; D015785:Eye Diseases, Hereditary / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D063146:Polycomb-Group Proteins; D012097:Repressor Proteins / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics; D014960:X Chromosome
chemical_list: D018076:DNA, Complementary; D063146:Polycomb-Group Proteins; D012097:Repressor Proteins