title: Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22.
abstract: We have identified a novel gene with homologies to the Drosophila Sex comb on midleg (Scm) gene from the short arm of the X chromosome. Scm is a member of the Polycomb group (PcG) genes, which encode transcriptional repressors essential for appropriate development in the fly and in mammals. The newly identified transcript named SCML2 (sex comb on midleg like-2, HGMW-approved symbol) is ubiquitously expressed and encodes a protein of 700 amino acids. SCML2 maps very close to the recently identified SCML1, revealing the presence of a new gene cluster in Xp22. The homology and map location identify SCML2 as a candidate gene for Xp22-linked developmental disorders, including the oral-facial-digital type I (OFDI) syndrome. A study of the SCML1-SCML2 cluster in primates indicates that the two genes are localized to the same region in Old World monkeys, New World monkeys, and prosimians, suggesting that the duplication event leading to the formation of the SCML cluster on Xp22 occurred before primate divergence.
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Montini
authors.forename: G
authors.initials: G
authors.lastname: Buchner
authors.forename: C
authors.initials: C
authors.lastname: Spalluto
authors.forename: G
authors.initials: G
authors.lastname: Andolfi
authors.forename: A
authors.initials: A
authors.lastname: Caruso
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: D
authors.initials: D
authors.lastname: Trump
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: B
authors.initials: B
authors.lastname: Franco
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D002460:Cell Line; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D004330:Drosophila / Q000235:genetics*; D029721:Drosophila Proteins; D005260:Female; D015870:Gene Expression; D005796:Genes / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D063146:Polycomb-Group Proteins; D011323:Primates; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D014157:Transcription Factors; D014960:X Chromosome / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D063146:Polycomb-Group Proteins; D012333:RNA, Messenger; D012097:Repressor Proteins; C099357:SCM protein, Drosophila; C112628:SCML1 protein, human; C119751:SCML2 protein, human; D014157:Transcription Factors; D004247:DNA