Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3

Genomics. 1999 Jul 1;59(1):77-84. doi: 10.1006/geno.1999.5844.


The Drosophila male-specific lethal (MSL) genes regulate transcription from the male X chromosome in a dosage compensation pathway that equalizes X-linked gene expression in males and females. The members of this gene family, including msl-1, msl-2, msl-3, mle, and mof, encode proteins with no sequence homology. However, mutations in each of these genes produce a similar phenotype: sex-specific lethality of male embryos caused by the failure of mutants to increase transcription from the single male X chromosome. The MSL gene products assemble into a multiprotein transcriptional activation complex at hundreds of sites along the chromatin of the X chromosome. Here we report the isolation and characterization of a human gene, named MSL3L1, that encodes a protein with significant homology to Drosophila MSL-3 in three distinct regions, including two putative chromo domains. MSL3L1 was identified by database queries with genomic sequence from BAC GS-590J6 (GenBank AC0004554) in Xp22.3 and was evaluated as a candidate gene for several developmental disorders mapping to this region, including OFD1 and SED tarda, as well as Aicardi syndrome and Goltz syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Binding Sites
  • Chromatin / metabolism*
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / metabolism
  • Chromosome Mapping
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • DNA-Binding Proteins
  • Dosage Compensation, Genetic
  • Drosophila / genetics*
  • Drosophila Proteins*
  • Exons
  • Female
  • Gene Expression Regulation, Developmental
  • Genes / genetics
  • Humans
  • Introns
  • Male
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Tissue Distribution
  • Transcription Factors / genetics*
  • X Chromosome / genetics*


  • Chromatin
  • Chromosomal Proteins, Non-Histone
  • DNA, Complementary
  • DNA-Binding Proteins
  • Drosophila Proteins
  • MSL3 protein, human
  • Nuclear Proteins
  • RNA, Messenger
  • Transcription Factors
  • msl-3 protein, Drosophila
  • DNA

Associated data

  • GENBANK/AF117065
  • GENBANK/AF117066