Protein-coding gene in humans
Homeobox protein Hox-D11 is a protein that in humans is encoded by the HOXD11 gene .[ 5] [ 6] [ 7]
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in axial skeleton development and forelimb morphogenesis.[ 7] [ 8] [ 9] [ 10]
^ a b c GRCh38: Ensembl release 89: ENSG00000128713 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042499 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ McAlpine PJ, Shows TB (August 1990). "Nomenclature for human homeobox genes". Genomics . 7 (3): 460. doi :10.1016/0888-7543(90)90186-X . PMID 1973146 . ^ Scott MP (December 1992). "Vertebrate homeobox gene nomenclature". Cell . 71 (4): 551–3. doi :10.1016/0092-8674(92)90588-4 . PMID 1358459 . S2CID 13370372 . ^ a b "HOXD11 homeobox D11" .^ Davis AP, Capecchi MR (1 August 1994). "Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11" . Development . 120 (8): 2187–98. doi :10.1242/dev.120.8.2187 . PMID 7925020 . ^ Davis AP, Witte DP, Hsieh-Li HM, Potter SS, Capecchi MR (June 1995). "Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11". Nature . 375 (6534): 791–5. Bibcode :1995Natur.375..791D . doi :10.1038/375791a0 . PMID 7596412 . S2CID 4256901 . ^ Davis AP, Capecchi MR (1 April 1996). "A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse" . Development . 122 (4): 1175–85. doi :10.1242/dev.122.4.1175 . PMID 8620844 . Johnson RL, Tabin CJ (1997). "Molecular models for vertebrate limb development" . Cell . 90 (6): 979–90. doi :10.1016/S0092-8674(00)80364-5 PMID 9323126 . S2CID 16213729 . Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet . 112 (3): 256–65. doi :10.1002/ajmg.10776 . PMID 12357469 . Acampora D, D'Esposito M, Faiella A, et al. (1990). "The human HOX gene family" . Nucleic Acids Res . 17 (24): 10385–402. doi :10.1093/nar/17.24.10385 . PMC 335308 PMID 2574852 . Shen WF, Montgomery JC, Rozenfeld S, et al. (1997). "AbdB-like Hox proteins stabilize DNA binding by the Meis1 homeodomain proteins" . Mol. Cell. Biol . 17 (11): 6448–58. doi :10.1128/MCB.17.11.6448 . PMC 232497 PMID 9343407 . Hérault Y, Beckers J, Gérard M, Duboule D (1999). "Hox gene expression in limbs: colinearity by opposite regulatory controls" . Dev. Biol . 208 (1): 157–65. doi :10.1006/dbio.1998.9179 PMID 10075849 . Del Campo M, Jones MC, Veraksa AN, et al. (1999). "Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster" . Am. J. Hum. Genet . 65 (1): 104–10. doi :10.1086/302467 . PMC 1378080 PMID 10364522 . Limongi MZ, Pelliccia F, Gaddini L, Rocchi A (2000). "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet . 90 (1–2): 151–3. doi :10.1159/000015651 . PMID 11060466 . S2CID 35579702 . Patterson LT, Pembaur M, Potter SS (2001). "Hoxa11 and Hoxd11 regulate branching morphogenesis of the ureteric bud in the developing kidney" . Development . 128 (11): 2153–61. doi :10.1242/dev.128.11.2153 PMID 11493536 . Goodman FR, Majewski F, Collins AL, Scambler PJ (2002). "A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly" . Am. J. Hum. Genet . 70 (2): 547–55. doi :10.1086/338921 . PMC 384929 PMID 11778160 . Taketani T, Taki T, Shibuya N, et al. (2002). "The HOXD11 gene is fused to the NUP98 gene in acute myeloid leukemia with t(2;11)(q31;p15)". Cancer Res . 62 (1): 33–7. PMID 11782354 . Kosaki K, Kosaki R, Suzuki T, et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology . 65 (2): 50–62. doi :10.1002/tera.10009 . PMID 11857506 . Boulet AM, Capecchi MR (2002). "Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse" . Dev. Biol . 249 (1): 96–107. doi :10.1006/dbio.2002.0755 PMID 12217321 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Zhao X, Sun M, Zhao J, et al. (2007). "Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome" . Am. J. Hum. Genet . 80 (2): 361–71. doi :10.1086/511387 . PMC 1785357 PMID 17236141 . This article incorporates text from the United States National Library of Medicine , which is in the public domain .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
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