Cloning and chromosomal localization of the human BARX2 homeobox protein gene

Alan Krasner, Lalena Wallace, Arunthathi Thiagalingam, Christopher Jones, Christoph Lengauer, Lara Minahan, Yongkang Ma, Linda Kalikin, Andrew P. Feinberg, Ethylin Wang Jabs, Alan Tunnacliffe, Stephen B. Baylin, Douglas W. Ball, Barry D. Nelkin

Research output: Contribution to journalArticlepeer-review

Abstract

The human BARX2 gene encodes a homeodomain-containing protein of 254 amino acids, which binds optimally to the DNA consensus sequence YYTAATGRTTTTY. BARX2 is highly expressed in adult salivary gland and is expressed at lower levels in other tissues, including mammary gland, kidney, and placenta. The BARX2 gene consists of four exons, and is located on human chromosome 11q25. This chromosomal location is within the minimal deletion region for Jacobsen syndrome, a syndrome including craniosynostosis and other developmental abnormalities. This chromosomal location, along with the reported expression of murine barx2 in craniofacial development, suggests that BARX2 may be causally involved in the craniofacial abnormalities in Jacobsen syndrome. (C) 2000 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)171-180
Number of pages10
JournalGene
Volume250
Issue number1-2
DOIs
StatePublished - May 30 2000

Keywords

  • Chromosome 11
  • Jacobsen syndrome
  • Medullary thyroid carcinoma
  • Salivary gland

ASJC Scopus subject areas

  • Genetics

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