A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online.

In man there are 39 homeobox genes of the HOX family in four loci, HOXA, HOXB, HOXC and HOXD on chromosomes 7, 17, 12, and 2. We discovered the existence of two major alleles, termed a and b, of gene HOXB1. They differ at a specific position in the 5' portion of the coding region. Sequencing the two alleles revealed that the allele HOXB1A, contains two copies of the 9bp sequence 5'ACAGCGCCC3', starting at position 65 of the coding region, whereas the allele HOXB1b contains three copies of this sequence (Fig. 1). As a consequence, the allele HOXB1b encodes a homeoprotein containing two copies of the tripeptide HisSerAla, starting at amino acid residue 25, which is present in only one copy in allele HOXB1a. We analyzed 250 individuals and found that the allelic frequencies of HOXB1a and HOXB1b were 78.8% and 21.2%. The murine homologue contains only one copy of the 9bp repeat (Fig. 1). 7 mouse strains, namely 129, BALB/c, C57BL/6, C57BL/10, CAST/Ei, C3H and SPRET/Ei, are homozygous for this allele. The allele present in gibbon and rhesus monkey appears to be identical to the human HOXB1b (Fig. 1).