A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1

Ian G. Campbell, Hans M. Nicolal, William D. Foulkes, Abriel Senger, Gordon W. Stamps, Gordon Allans, Clnda Boyer, Karen Jones, Robert C. Bast, Ellen Solomon, John Trowsdale, Donald M. Black

Research output: Contribution to journalArticlepeer-review

108 Scopus citations

Abstract

A novel cDNA clone was Isolated using a polyclonal serum directed against partially purified ovarian carcinoma antigen CA125. The deduced peptide sequence lacked membrane protein characteristics expected for CA125 but encompassed a B-box/coiled coll motif present in many genes with transformation potential. The gene was mapped by fluorescence In situ hybridization within the minimum region known to contain the familial breast/ovarian carcinoma gene, BRCA1. YAC and cosmid clones were isolated and used to refine the location of this gene adjacent and proximal to the RNU2 locus. The exon structure of the gene was determined. Extensive SSCP and sequence analysis of over 100 tumour and normal DNAs from familial and sporadic breast cancers and sporadic ovarian cancers failed to detect mutations In the coding region of this gene.

Original languageEnglish (US)
Pages (from-to)589-594
Number of pages6
JournalHuman molecular genetics
Volume3
Issue number4
DOIs
StatePublished - Apr 1994
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1'. Together they form a unique fingerprint.

Cite this