Disease relevance of HOXD8

• Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation [1].
• Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker [2].

High impact information on HOXD8

• Specific target recognition and functional interaction with HMG1 can be transferred to HOXD8 by homeodomain swapping [3].
• The presence of this duplication confirmed the status of four normal gene carriers, one incomplete penetrance and two affected individuals who were recombinants for HOXD8 or HOXD13-CA repeat markers [4].
• Sixty-two meioses from a kindred with 425 individuals were used to map the SPD locus to 2q31 region, approximately 1.7 cM (Lod score = 12.96) centromeric to HOXD8 intragenic marker [2].
• Dinucleotide repeat polymorphism in the HOX4E locus [5].
• The HOXD8 locus (2q31) is linked to type I diabetes. Interaction with chromosome 6 and 11 disease susceptibility genes [6].

Biological context of HOXD8

• This suggests that aside from its effects during embryogenesis, the HOX4E gene may play a continuing role in adult genitourinary tract function [7].
• The N-terminal portion of the HOX4E activation domain contains several consensus sequence elements also found in other mammalian AbdB family genes [7].

Other interactions of HOXD8

• An updated order of D2S142-D2S111-(D2S335/D2S333)-D2S326-D2 S1238-SPD- (HOXD8/D2S1244)-(D2S300/D2S138)-D2S148- D2S324- D2S1384-D2S434 [sequence:see text] was deduced from meiotic recombination events [2].

Analytical, diagnostic and therapeutic context of HOXD8

• Northern blot analysis of HOX4E expression in adult tissues showed a major human transcript of 1.8 kb, the expression of which was largely limited to tissues of the male and female urogenital tracts [7].

References