Alternative titles; symbols
HGNC Approved Gene Symbol: HOXD8
Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,129,705-176,132,695 (from NCBI)
Redline et al. (1992) isolated genomic and cDNA clones containing the human HOX4E gene. Northern blot analysis of HOX4E expression in adult tissues showed a major transcript of 1.8 kb, the expression of which was largely limited to tissues of the male and female urogenital tracts. Expression was particularly strong in the uterus. This suggested that aside from its effects during embryogenesis, the HOX4E gene may play a continuing role in adult genitourinary tract function. Rosen and Brown (1993) identified a dinucleotide repeat polymorphism in this locus. This gene is also symbolized HOXD8, as part of the HOXD gene cluster on chromosome 2q31.
Redline et al. (1992) determined that the HOX4E gene contains 2 exons and spans about 5 kb of DNA.
Zakany and Duboule (1999) used a Hoxd minicomplex in mice to show that an overlapping, yet different, set of Hoxd genes contributes to the formation of the iliocecal sphincter, which divides the small intestine from the large bowel. See HOXD3, 142980.
Yekta et al. (2004) found that miR196 (608632) has extensive evolutionarily conserved complementarity to messages of HOXB8 (142963), HOXC8 (142970), and HOXD8. Cell culture experiments demonstrated downregulation of HOXB8, HOXC8, HOXD8, and HOXA7 (142950) and supported the cleavage mechanism for miR196-directed repression of HOXB8.
As reviewed by Acampora et al. (1989), the homeobox region 4 includes at least 6 homeobox genes in 70 kb of DNA located on chromosome 2. The order of the genes, from 5-prime to 3-prime, is HOX4F (HOXD11; 142986), HOX4D (HOXD10; 142984), HOX4C (HOXD9; 142982), HOX4E (HOXD8), HOX4B (HOXD4; 142981), HOX4A (HOXD3). HOX4A is homologous to mouse Hox-4.1. Genes HOX4B (HOXD4) through HOX4G (HOXD1; 142987) are homologous to mouse genes Hox-4.2 through Hox-4.7, respectively. Hox-4.2 through Hox-4.7 were previously thought to be Hox-5 genes. See 142988 and 142989, respectively, for 2 additional contiguous genes, HOX4H (HOXD12) and HOX4I (HOXD13).
Acampora, D., D'Esposito, M., Faiella, A., Pannese, M., Migliaccio, E., Morelli, F., Stornaiuolo, A., Nigro, V., Simeone, A., Boncinelli, E. The human HOX gene family. Nucleic Acids Res. 17: 10385-10402, 1989. [PubMed: 2574852] [Full Text: https://doi.org/10.1093/nar/17.24.10385]
Redline, R. W., Williams, A. J., Patterson, P., Collins, T. Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts. Genomics 13: 425-430, 1992. [PubMed: 1351871] [Full Text: https://doi.org/10.1016/0888-7543(92)90263-r]
Rosen, D. R., Brown, R. H., Jr. Dinucleotide repeat polymorphism in the HOX4E locus. Hum. Molec. Genet. 2: 617 only, 1993. [PubMed: 8100165] [Full Text: https://doi.org/10.1093/hmg/2.5.617]
Yekta, S., Shih, I., Bartel, D. P. MicroRNA-directed cleavage of HOXB8 mRNA. Science 304: 594-596, 2004. [PubMed: 15105502] [Full Text: https://doi.org/10.1126/science.1097434]
Zakany, J., Duboule, D. Hox genes and the making of sphincters. Nature 401: 761-762, 1999. [PubMed: 10548099] [Full Text: https://doi.org/10.1038/44511]