Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach

Am J Hum Genet. 1993 Jan;52(1):24-38.

Abstract

Using a simple strategy involving cosmid-mediated gene transfer, cDNA library construction, and molecular characterization techniques, we have determined the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, the putative testis-determining factor (TDF) gene on the human Y chromosome. By this approach, a recombinant cosmid harboring the human SRY sequence was isolated and transfected to appropriate tissue-cultured cells. Recombinant cDNA clones were isolated from a cDNA library constructed from poly (A) + RNA of the transfected cells. Comparative studies between the respective cDNAs and the genomic cosmid have provided information regarding the organization of the SRY gene and its mRNAs. The results indicate that the human SRY gene is an intronless gene, produces transcripts of 1.1 kb, and possesses promoter activities in the transfected cells at approximately 310 bp of its upstream sequences.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • Cosmids
  • DNA
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Introns
  • Male
  • Mice
  • Molecular Sequence Data
  • Nuclear Proteins*
  • Promoter Regions, Genetic*
  • Sex Determination Analysis
  • Sex-Determining Region Y Protein
  • Transcription Factors*
  • Transcription, Genetic*
  • Y Chromosome*

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Sry protein, mouse
  • Transcription Factors
  • DNA

Associated data

  • GENBANK/L10101
  • GENBANK/L10102