Human HOX gene disorders

Carroll, 1995, Homeotic genes and the evolution of arthropods and chordates, Nature, 376, 479, 10.1038/376479a0 Lewis, 1992, Clusters of master control genes regulate the development of higher organisms, JAMA, 267, 1524, 10.1001/jama.1992.03480110100042 McGinnis, 1992, Homeobox genes and axial patterning, Cell, 68, 283, 10.1016/0092-8674(92)90471-N Duboule, 1994, Colinearity and functional hierarchy among genes of the homeotic complexes, Trends Genet., 10, 358, 10.1016/0168-9525(94)90132-5 Rijli, 1993, A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene, Cell, 75, 1333, 10.1016/0092-8674(93)90620-6 Gendron-Maguire, 1993, Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest, Cell, 75, 1317, 10.1016/0092-8674(93)90619-2 Favier, 1997, Developmental functions of mammalian Hox genes, Mol. Hum. Reprod., 3, 115, 10.1093/molehr/3.2.115 Wellik, 2009, Hox genes and vertebrate axial pattern, Curr. Top. Dev. Biol., 88, 257, 10.1016/S0070-2153(09)88009-5 Davis, 1995, Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11, Nature, 375, 791, 10.1038/375791a0 Favier, 1996, Functional cooperation between the non-paralogous genes Hoxa-10 and Hoxd-11 in the developing forelimb and axial skeleton, Development, 122, 449, 10.1242/dev.122.2.449 McIntyre, 2007, Hox patterning of the vertebrate rib cage, Development, 134, 2981, 10.1242/dev.007567 Zakany, 2007, The role of Hox genes during vertebrate limb development, Curr. Opin. Genet. Dev., 17, 359, 10.1016/j.gde.2007.05.011 Kessel, 1991, Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid, Cell, 67, 89, 10.1016/0092-8674(91)90574-I Akarsu, 1996, Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families, Hum. Mol. Genet., 5, 945, 10.1093/hmg/5.7.945 Muragaki, 1996, Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13, Science, 272, 548, 10.1126/science.272.5261.548 Tischfield, 2005, Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development, Nat. Genet., 37, 1035, 10.1038/ng1636 Bosley, 2008, The clinical spectrum of homozygous HOXA1 mutations, Am. J. Med. Genet. A, 146A, 1235, 10.1002/ajmg.a.32262 Holve, 2003, Athabascan brainstem dysgenesis syndrome, Am. J. Med. Genet. A, 120A, 169, 10.1002/ajmg.a.20087 Makki, 2012, Cardiovascular defects in a mouse model of HOXA1 syndrome, Hum. Mol. Genet., 21, 26, 10.1093/hmg/ddr434 Alasti, 2008, A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family, Am. J. Hum. Genet., 82, 982, 10.1016/j.ajhg.2008.02.015 Mallo, 1996, Development of the mammalian ear: coordinate regulation of formation of the tympanic ring and the external acoustic meatus, Development, 122, 173, 10.1242/dev.122.1.173 Monks, 2010, Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia, Int. J. Pediatr. Otorhinolaryngol., 74, 878, 10.1016/j.ijporl.2010.05.004 Thompson, 2000, Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation, Nat. Genet., 26, 397, 10.1038/82511 Small, 1993, Homeotic transformations and limb defects in Hox A11 mutant mice, Genes Dev., 7, 2318, 10.1101/gad.7.12a.2318 Connell, 2008, HOXA11 is critical for development and maintenance of uterosacral ligaments and deficient in pelvic prolapse, J. Clin. Invest., 118, 1050 Mortlock, 1997, Mutation of HOXA13 in hand–foot–genital syndrome, Nat. Genet., 15, 179, 10.1038/ng0297-179 Goodman, 2000, Novel HOXA13 mutations and the phenotypic spectrum of hand–foot–genital syndrome, Am. J. Hum. Genet., 67, 197, 10.1086/302961 Innis, 2002, A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome, Hum. Mutat., 19, 573, 10.1002/humu.9036 Stern, 1970, The hand–food–uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract, J. Pediatr., 77, 109, 10.1016/S0022-3476(70)80052-X Guttmacher, 1993, Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias, Am. J. Med. Genet., 46, 219, 10.1002/ajmg.1320460223 Innis, 2004, Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model, Hum. Mol. Genet., 13, 2841, 10.1093/hmg/ddh306 Frisén, 2003, A novel duplication in the HOXA13 gene in a family with atypical hand–foot–genital syndrome, J. Med. Genet., 40, e49, 10.1136/jmg.40.4.e49 Utsch, 2007, Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome, Am. J. Med. Genet. A, 143A, 3161, 10.1002/ajmg.a.31967 Owens, 2013, Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation, Am. J. Med. Genet. A, 161A, 1019, 10.1002/ajmg.a.35843 Brown, 2004, Alanine tracts: the expanding story of human illness and trinucleotide repeats, Trends Genet., 20, 51, 10.1016/j.tig.2003.11.002 Webb, 2012, HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1−/− mice, Am. J. Hum. Genet., 13, 171, 10.1016/j.ajhg.2012.05.018 Guthrie, 2007, Patterning and axon guidance of cranial motor neurons, Nat. Rev. Neurosci., 8, 859, 10.1038/nrn2254 Briscoe, 2004, Establishing neuronal circuitry: Hox genes make the connection, Genes Dev., 18, 1643, 10.1101/gad.1227004 Ewing, 2012, Germline mutations in HOXB13 and prostate-cancer risk, N. Engl. J. Med., 366, 141, 10.1056/NEJMoa1110000 Akbari, 2013, Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer, Cancer Epidemiol., 37, 424, 10.1016/j.canep.2013.03.003 Alanee, 2012, Association of a HOXB13 variant with breast cancer, N. Engl. J. Med., 367, 480, 10.1056/NEJMc1205138 Akbari, 2012, Association between germline HOXB13 G84E mutation and risk of prostate cancer, J. Natl. Cancer Inst., 104, 1260, 10.1093/jnci/djs288 Xu, 2013, HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG), Hum. Genet., 132, 5, 10.1007/s00439-012-1229-4 Stott Miller, 2012, HOXB13 mutations in a population‐based, case–control study of prostate cancer, Prostate, 73, 634, 10.1002/pros.22604 Lin, 2013, A novel germline mutation in HOXB13 is associated with prostate cancer risk in Chinese men, Prostate, 73, 169, 10.1002/pros.22552 Akbari, 2012, The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer, Breast Cancer Res. Treat., 136, 907, 10.1007/s10549-012-2295-y Williams, 2005, Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction, Dev. Biol., 277, 457, 10.1016/j.ydbio.2004.10.004 MacInnis, 2013, Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E, PLoS One, 8, e54727, 10.1371/journal.pone.0054727 Economides, 2003, Hoxb13 mutations cause overgrowth of caudal spinal cord and tail vertebrae, Dev. Biol., 256, 317, 10.1016/S0012-1606(02)00137-9 Lin, 2012, Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia, Am. J. Hum. Genet., 2, 906, 10.1016/j.ajhg.2012.08.029 Calzavara-Pinton, 1991, Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia, Dermatologica, 182, 184, 10.1159/000247779 Farooq, 2013, A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family, Hum. Mutat., 34, 578 Ali, 2013, Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families, Br. J. Dermatol., 169, 478, 10.1111/bjd.12302 Godwin, 1998, Hoxc13 mutant mice lack external hair, Genes Dev., 12, 11, 10.1101/gad.12.1.11 van Scherpenzeel Thim, 2005, Mutation analysis of the HOX paralogous 4–13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation ofHOXD4 leading to a partial loss-of-function, Hum. Mutat., 25, 384, 10.1002/humu.20155 Horan, 1995, Compound mutants for the paralogous hoxa-4, hoxb-4, and hoxd-4 genes show more complete homeotic transformations and a dose-dependent increase in the number of vertebrae transformed, Genes Dev., 9, 1667, 10.1101/gad.9.13.1667 Horan, 1995, Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: evidence for unique and redundant function, Dev. Biol., 169, 359, 10.1006/dbio.1995.1150 Brun, 2004, Hoxb4-deficient mice undergo normal hematopoietic development but exhibit a mild proliferation defect in hematopoietic stem cells, Blood, 103, 4126, 10.1182/blood-2003-10-3557 Shrimpton, 2004, A HOX gene mutation in a family with isolated congenital vertical talus and Charcot–Marie–Tooth disease, Am. J. Hum. Genet., 75, 92, 10.1086/422015 Dobbs, 2006, HOXD10 M319K mutation in a family with isolated congenital vertical talus, J. Orthop. Res., 24, 448, 10.1002/jor.20052 Carpenter, 1997, Targeted disruption of Hoxd-10 affects mouse hindlimb development, Development, 124, 4505, 10.1242/dev.124.22.4505 Goodman, 2002, Limb malformations and the human HOX genes, Am. J. Med. Genet., 112, 256, 10.1002/ajmg.10776 Garcia-Barceló, 2008, Identification of a HOXD13 mutation in a VACTERL patient, Am. J. Med. Genet. A, 146A, 3181, 10.1002/ajmg.a.32426 Zhao, 2007, Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly–syndactyly syndrome, Am. J. Hum. Genet., 80, 361, 10.1086/511387 Sayli, 1995, A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data, J. Med. Genet., 32, 421, 10.1136/jmg.32.6.421 Merlob, 1986, Type II syndactyly or synpolydactyly, J. Med. Genet., 23, 237, 10.1136/jmg.23.3.237 Goodman, 1997, Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract, Proc. Natl. Acad. Sci. U. S. A., 94, 7458, 10.1073/pnas.94.14.7458 Akarsu, 1995, A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?, J. Med. Genet., 32, 435, 10.1136/jmg.32.6.435 Goodman, 1998, Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families, Am. J. Hum. Genet., 63, 992, 10.1086/302070 Debeer, 2002, Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13, J. Med. Genet., 39, 852, 10.1136/jmg.39.11.852 Fantini, 2009, A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype, Hum. Mol. Genet., 18, 847 Johnson, 2003, Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E, Am. J. Hum. Genet., 72, 984, 10.1086/374721 Caronia, 2003, An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function, Development, 130, 1701, 10.1242/dev.00396 Jamsheer, 2012, Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report, BMC Med. Genet., 13, 4, 10.1186/1471-2350-13-4 Brison, 2012, Limb skeletal malformations—what the HOX is going on?, Eur. J. Med. Genet., 55, 1, 10.1016/j.ejmg.2011.06.003 Albrecht, 2004, A molecular pathogenesis for transcription factor associated poly-alanine tract expansions, Hum. Mol. Genet., 13, 2351, 10.1093/hmg/ddh277 Bruneau, 2001, The mouse Hoxd13 spdh mutation, a polyalanine expansion similar to human type ii synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes, Dev. Biol., 237, 345, 10.1006/dbio.2001.0382 Goodman, 2002, A 117-kb microdeletion removing HOXD9–HOXD13 and EVX2 causes synpolydactyly, Am. J. Hum. Genet., 70, 547, 10.1086/338921 Fraenkel, 1998, Engrailed homeodomain-DNA complex at 2.2Å resolution: a detailed view of the interface and comparison with other engrailed structures, J. Mol. Biol., 284, 351, 10.1006/jmbi.1998.2147 Grant, 2000, Exploring the role of glutamine 50 in the homeodomain-DNA interface: crystal structure of engrailed (Gln50→Ala) complex at 2.0Å, Biochemistry, 39, 8187, 10.1021/bi000071a Guo, 2011, An evolving NGF-Hoxd1 signaling pathway mediates development of divergent neural circuits in vertebrates, Nat. Neurosci., 14, 31, 10.1038/nn.2710 Sham, 1993, The zinc finger gene Krox20 regulates HoxB2 (Hox2.8) during hindbrain segmentation, Cell, 72, 183, 10.1016/0092-8674(93)90659-E Gavalas, 2003, Neuronal defects in the hindbrain of Hoxa1, Hoxb1 and Hoxb2 mutants reflect regulatory interactions among these Hox genes, Development, 130, 5663, 10.1242/dev.00802 Barrow, 1996, Targeted disruption of the Hoxb-2 locus in mice interferes with expression of Hoxb-1 and Hoxb-4, Development, 122, 3817, 10.1242/dev.122.12.3817 Chisaka, 1991, Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5, Nature, 350, 473, 10.1038/350473a0 Manley, 1995, The role of Hoxa-3 in mouse thymus and thyroid development, Development, 121, 1989, 10.1242/dev.121.7.1989 Manley, 1997, Hox group 3 paralogous genes act synergistically in the formation of somitic and neural crest-derived structures, Dev. Biol., 192, 274, 10.1006/dbio.1997.8765 Condie, 1993, Mice homozygous for a targeted disruption of Hoxd-3 (Hox-4.1) exhibit anterior transformations of the first and second cervical vertebrae, the atlas and the axis, Development, 119, 579, 10.1242/dev.119.3.579 Horan, 1994, Homeotic transformation of cervical vertebrae in Hoxa-4 mutant mice, Proc. Natl. Acad. Sci. U. S. A., 91, 12644, 10.1073/pnas.91.26.12644 Kostic, 1994, Targeted disruptions of the murine Hoxa-4 and Hoxa-6 genes result in homeotic transformations of components of the vertebral column, Mech. Dev., 46, 231, 10.1016/0925-4773(94)90073-6 Ramírez-Solis, 1993, Hoxb-4 (Hox-2.6) mutant mice show homeotic transformation of a cervical vertebra and defects in the closure of the sternal rudiments, Cell, 73, 279, 10.1016/0092-8674(93)90229-J Boulet, 1996, Targeted disruption of hoxc-4 causes esophageal defects and vertebral transformations, Dev. Biol., 177, 232, 10.1006/dbio.1996.0159 Aubin, 1997, Early postnatal lethality in Hoxa-5 mutant mice is attributable to respiratory tract defects, Dev. Biol., 192, 432, 10.1006/dbio.1997.8746 Jeannotte, 1993, Specification of axial identity in the mouse: role of the Hoxa-5 (Hox1.3) gene, Genes Dev., 7, 2085, 10.1101/gad.7.11.2085 Boucherat, 2013, Partial functional redundancy between Hoxa5 and Hoxb5 paralog genes during lung morphogenesis, Am. J. Physiol. Lung Cell. Mol. Physiol., 304, L817, 10.1152/ajplung.00006.2013 Rancourt, 1995, Genetic interaction between hoxb-5 and hoxb-6 is revealed by nonallelic noncomplementation, Genes Dev., 9, 108, 10.1101/gad.9.1.108 Philippidou, 2012, Sustained Hox5 gene activity is required for respiratory motor neuron development, Nat. Neurosci., 15, 1636, 10.1038/nn.3242 Garcia Gasca, 2000, Differential mammary morphogenesis along the anteroposterior axis in Hoxc6 gene targeted mice, Dev. Dyn., 219, 261, 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1048>3.0.CO;2-3 Chen, 1998, Analysis of Hoxa7/Hoxb7 mutants suggests periodicity in the generation of the different sets of vertebrae, Mech. Dev., 77, 49, 10.1016/S0925-4773(98)00126-9 Greer, 2002, Hoxb8 is required for normal grooming behavior in mice, Neuron, 33, 23, 10.1016/S0896-6273(01)00564-5 van den Akker, 1999, Targeted inactivation of Hoxb8 affects survival of a spinal ganglion and causes aberrant limb reflexes, Mech. Dev., 89, 103, 10.1016/S0925-4773(99)00212-9 van Den Akker, 2001, Axial skeletal patterning in mice lacking all paralogous group 8 Hox genes, Development, 128, 1911, 10.1242/dev.128.10.1911 Le Mouellic, 1992, Homeosis in the mouse induced by a null mutation in the Hox-3.1 gene, Cell, 69, 251, 10.1016/0092-8674(92)90406-3 Lawrence, 1997, Mice bearing a targeted interruption of the homeobox gene HOXA9 have defects in myeloid, erythroid, and lymphoid hematopoiesis, Blood, 89, 1922, 10.1182/blood.V89.6.1922 Fromental-Ramain, 1996, Specific and redundant functions of the paralogous Hoxa-9 and Hoxd-9 genes in forelimb and axial skeleton patterning, Development, 122, 461, 10.1242/dev.122.2.461 Chen, 1997, Targeted mutations in hoxa-9 and hoxb-9 reveal synergistic interactions, Dev. Biol., 181, 186, 10.1006/dbio.1996.8440 Suemori, 1995, Hoxc-9 mutant mice show anterior transformation of the vertebrae and malformation of the sternum and ribs, Mech. Dev., 51, 265, 10.1016/0925-4773(95)00371-1 Benson, 1996, Mechanisms of reduced fertility in Hoxa-10 mutant mice: uterine homeosis and loss of maternal Hoxa-10 expression, Development, 122, 2687, 10.1242/dev.122.9.2687 Podlasek, 1999, Hoxa‐10 deficient male mice exhibit abnormal development of the accessory sex organs, Dev. Dyn., 214, 1, 10.1002/(SICI)1097-0177(199901)214:1<1::AID-DVDY1>3.0.CO;2-2 Satokata, 1995, Sexually dimorphic sterility phenotypes in Hoxa10-deficient mice, Nature, 374, 460, 10.1038/374460a0 Rijli, 1995, Cryptorchidism and homeotic transformations of spinal nerves and vertebrae in Hoxa-10 mutant mice, Proc. Natl. Acad. Sci. U. S. A., 92, 8185, 10.1073/pnas.92.18.8185 Hostikka, 2009, Axial and appendicular skeletal transformations, ligament alterations, and motor neuron loss in Hoxc10 mutants, Int. J. Biol. Sci., 5, 397, 10.7150/ijbs.5.397 Pruett, 2012, Changing topographic Hox expression in blood vessels results in regionally distinct vessel wall remodeling, Biol. Open, 1, 430, 10.1242/bio.2012039 Davis, 1994, Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11, Development, 120, 2187, 10.1242/dev.120.8.2187 Davis, 1996, A mutational analysis of the 5′ HoxD genes: dissection of genetic interactions during limb development in the mouse, Development, 122, 1175, 10.1242/dev.122.4.1175