Cloning and chromosomal localization of the human BARX2 homeobox protein gene

The human BARX2 gene encodes a homeodomain-containing protein of 254 amino acids, which binds optimally to the DNA consensus sequence YYTAATGRTTTTY. B ARX2 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 11q2 5. This chromosomal location is within the minimal deletion region for Jaco bsen syndrome, a syndrome including craniosynostosis and other developmenta l abnormalities. This chromosomal location, along with the reported express ion 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. All rights reserved.