Gene Symbol: Hoxa1
Description: homeobox A1
Alias: ERA1, Hox-1.6, homeobox protein Hox-A1, early retinoic acid 1, homeobox protein Hox-1.6, homeoboxless protein ERA-1-399, homeotic protein ERA-1-993
Species: mouse
Products:     Hoxa1

Top Publications

  1. Gavalas A, Studer M, Lumsden A, Rijli F, Krumlauf R, Chambon P. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. Development. 1998;125:1123-36 pubmed
    The analysis of Hoxa1 and Hoxb1 null mutants suggested that these genes are involved in distinct aspects of hindbrain segmentation and specification. Here we investigate the possible functional synergy of the two genes...
  2. LaRosa G, Gudas L. Early retinoic acid-induced F9 teratocarcinoma stem cell gene ERA-1: alternate splicing creates transcripts for a homeobox-containing protein and one lacking the homeobox. Mol Cell Biol. 1988;8:3906-17 pubmed
    ..5 and day 13.5 mouse embryos. This result indicates that the expression of this gene is not limited to the endodermal differentiation of F9 cells. ..
  3. Zhang M, Kim H, Marshall H, Gendron Maguire M, Lucas D, Baron A, et al. Ectopic Hoxa-1 induces rhombomere transformation in mouse hindbrain. Development. 1994;120:2431-42 pubmed
    ..Taken together, these data suggest that ectopic Hoxa-1 expression can reorganize select regions of the developing hindbrain by inducing partial transformations of several rhombomeres into a rhombomere-4-like identity. ..
  4. Lufkin T, Dierich A, LeMeur M, Mark M, Chambon P. Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell. 1991;66:1105-19 pubmed
    ..The implication of these results for the function of the Hox network during mouse embryogenesis is discussed. ..
  5. Friedmann Y, Daniel C, Strickland P, Daniel C. Hox genes in normal and neoplastic mouse mammary gland. Cancer Res. 1994;54:5981-5 pubmed
    ..In contrast, Hoxa-1 was expressed only in cancers, not in normal gland or in precancerous mammary tissues, suggesting that Hox genes may play a role in a late stage in the stepwise development of mammary malignancies. ..
  6. Gendron Maguire M, Mallo M, Zhang M, Gridley T. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell. 1993;75:1317-31 pubmed
    ..Skeletal elements normally derived from the second arch were absent in the mutants. These data provide direct experimental evidence for the existence of a branchial Hox code. ..
  7. Frasch M, Chen X, Lufkin T. Evolutionary-conserved enhancers direct region-specific expression of the murine Hoxa-1 and Hoxa-2 loci in both mice and Drosophila. Development. 1995;121:957-74 pubmed
    ..These results suggest an evolutionary conservation between HOM-C/Hox family members, which includes a conservation of certain DNA regulatory elements and possible regulatory cascades. ..
  8. Zhang X, Zhu T, Chen Y, Mertani H, Lee K, Lobie P. Human growth hormone-regulated HOXA1 is a human mammary epithelial oncogene. J Biol Chem. 2003;278:7580-90 pubmed
    ..carcinoma cells increased the expression and transcriptional activity of the homeobox domain containing protein HOXA1. Forced expression of HOXA1 in human mammary carcinoma cells resulted in increased total cell number primarily by ..
  9. Remacle S, Abbas L, De Backer O, Pacico N, Gavalas A, Gofflot F, et al. Loss of function but no gain of function caused by amino acid substitutions in the hexapeptide of Hoxa1 in vivo. Mol Cell Biol. 2004;24:8567-75 pubmed
    ..biochemical studies provided evidence that critical amino acid substitutions in the hexapeptide sequence of Hoxa1 abolish its interaction with Pbx...

More Information


  1. Pruitt S, Bussman A, Maslov A, Natoli T, Heinaman R. Hox/Pbx and Brn binding sites mediate Pax3 expression in vitro and in vivo. Gene Expr Patterns. 2004;4:671-85 pubmed
    ..Ectopic expression of Brn2 plus HoxA1 but not either factor alone, is sufficient to induce efficient expression from the endogenous Pax3 promoter in P19 ..
  2. Lampe X, Samad O, Guiguen A, Matis C, Remacle S, Picard J, et al. An ultraconserved Hox-Pbx responsive element resides in the coding sequence of Hoxa2 and is active in rhombomere 4. Nucleic Acids Res. 2008;36:3214-25 pubmed publisher
    ..In this respect, our data further support the idea that extreme conservation of UCE sequences may be the result of multiple superposed functional and evolutionary constraints. ..
  3. Fernandez C, Gudas L. The truncated Hoxa1 protein interacts with Hoxa1 and Pbx1 in stem cells. J Cell Biochem. 2009;106:427-43 pubmed publisher
    Hox genes contain a homeobox encoding a 60-amino acid DNA binding sequence. The Hoxa1 gene (Hox1...
  4. Gavalas A, Trainor P, Ariza McNaughton L, Krumlauf R. Synergy between Hoxa1 and Hoxb1: the relationship between arch patterning and the generation of cranial neural crest. Development. 2001;128:3017-27 pubmed
    b>Hoxa1 and Hoxb1 have overlapping synergistic roles in patterning the hindbrain and cranial neural crest cells...
  5. Barrow J, Stadler H, Capecchi M. Roles of Hoxa1 and Hoxa2 in patterning the early hindbrain of the mouse. Development. 2000;127:933-44 pubmed
    ..Genes have been identified whose expression patterns distinguish these cellular compartments. Two of these genes, Hoxa1 and Hoxa2, have been shown to be required for proper patterning of the early mouse hindbrain and the associated ..
  6. Studer M, Gavalas A, Marshall H, Ariza McNaughton L, Rijli F, Chambon P, et al. Genetic interactions between Hoxa1 and Hoxb1 reveal new roles in regulation of early hindbrain patterning. Development. 1998;125:1025-36 pubmed
    In the developing vertebrate hindbrain Hoxa1 and Hoxb1 play important roles in patterning segmental units (rhombomeres)...
  7. Murphy P, Hill R. Expression of the mouse labial-like homeobox-containing genes, Hox 2.9 and Hox 1.6, during segmentation of the hindbrain. Development. 1991;111:61-74 pubmed
    ..4) Hox 2.9 expression is confined to the region of rhombomere 4 that shows cell lineage restriction and, unlike Krox 20, is expressed throughout the period that rhombomeres are visible (to 11 1/2 days).(ABSTRACT TRUNCATED AT 400 WORDS) ..
  8. Chen Y, Takano Maruyama M, Gaufo G. Plasticity of neural crest-placode interaction in the developing visceral nervous system. Dev Dyn. 2011;240:1880-8 pubmed publisher
    ..In Hoxa1(-/-) b1(-/-) embryos, r2 NC compensates for the loss of r4 NC...
  9. De Kumar B, Parker H, Paulson A, PARRISH M, Zeitlinger J, Krumlauf R. Hoxa1 targets signaling pathways during neural differentiation of ES cells and mouse embryogenesis. Dev Biol. 2017;432:151-164 pubmed publisher
    b>Hoxa1 has important functional roles in neural crest specification, hindbrain patterning and heart and ear development, yet the enhancers and genes that are targeted by Hoxa1 are largely unknown...
  10. Pasqualetti M, Neun R, Davenne M, Rijli F. Retinoic acid rescues inner ear defects in Hoxa1 deficient mice. Nat Genet. 2001;29:34-9 pubmed
    Little is known about the genetic pathways involved in the early steps of inner ear morphogenesis. Hoxa1 is transiently expressed in the developing hindbrain; its targeted inactivation in mice results in severe abnormalities of the otic ..
  11. Rayasam G, Wendling O, Angrand P, Mark M, Niederreither K, Song L, et al. NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J. 2003;22:3153-63 pubmed
    ..We have also examined the enzymatic potential of NSD1 and found that its SET domain possesses intrinsic histone methyltransferase activity with specificity for Lys36 of histone H3 (H3-K36) and Lys20 of histone H4 (H4-K20). ..
  12. Helmbacher F, Pujades C, Desmarquet C, Frain M, Rijli F, Chambon P, et al. Hoxa1 and Krox-20 synergize to control the development of rhombomere 3. Development. 1998;125:4739-48 pubmed
    The transcription factor genes Hoxa1 and Krox-20 have been shown to play important roles in vertebrate hindbrain segmentation...
  13. Thompson J, Chen S, Ho L, Langston A, Gudas L. An evolutionary conserved element is essential for somite and adjacent mesenchymal expression of the Hoxa1 gene. Dev Dyn. 1998;211:97-108 pubmed
    The murine Hoxa1 gene is a member of the vertebrate Hox complex and plays a role in defining the body plan during development. At day 8.0-9...
  14. Niederreither K, Vermot J, Le Roux I, Schuhbaur B, Chambon P, Dolle P. The regional pattern of retinoic acid synthesis by RALDH2 is essential for the development of posterior pharyngeal arches and the enteric nervous system. Development. 2003;130:2525-34 pubmed
    ..and mesoderm, and extends more rostrally than Raldh2 expression up to the 2nd arch; (iii) RA target genes (Hoxa1, Hoxb1) are downregulated in both the pharyngeal endoderm and mesoderm of mutant embryos...
  15. Voss A, Collin C, Dixon M, Thomas T. Moz and retinoic acid coordinately regulate H3K9 acetylation, Hox gene expression, and segment identity. Dev Cell. 2009;17:674-86 pubmed publisher
    ..In conclusion, our data show that Moz regulates H3K9 acetylation at Hox gene loci and that RA can act independently of Moz to establish specific Hox gene expression boundaries. ..
  16. Gavalas A, Ruhrberg C, Livet J, Henderson C, Krumlauf R. Neuronal defects in the hindbrain of Hoxa1, Hoxb1 and Hoxb2 mutants reflect regulatory interactions among these Hox genes. Development. 2003;130:5663-79 pubmed
    ..patterning in the hindbrain, we analysed neurogenesis, neuronal differentiation and motoneuron migration in Hoxa1, Hoxb1 and Hoxb2 mutant mice...
  17. Carver E, Issel Tarver L, Rine J, Olsen A, Stubbs L. Location of mouse and human genes corresponding to conserved canine olfactory receptor gene subfamilies. Mamm Genome. 1998;9:349-54 pubmed
    ..Combined with recently published studies, these data link the four conserved olfactory gene subfamilies to homologous regions of the human, dog, and mouse genomes. ..
  18. Nazarali A, Kim Y, Nirenberg M. Hox-1.11 and Hox-4.9 homeobox genes. Proc Natl Acad Sci U S A. 1992;89:2883-7 pubmed
    ..3 and Hox-4.2 genomic DNA revealed some differences in nucleotide sequences and in the deduced homeodomain amino acid sequences compared with the sequences that have been reported. ..
  19. Singh S, Rajput Y, Barui A, Sharma R, Datta T. Fat accumulation in differentiated brown adipocytes is linked with expression of Hox genes. Gene Expr Patterns. 2016;20:99-105 pubmed publisher
    ..In presence of these inducing agents, lipid accumulation as well as expression of HoxA1, HoxA5, HoxC4 &HoxC8 markedly enhanced...
  20. Maamar H, Cabili M, Rinn J, Raj A. linc-HOXA1 is a noncoding RNA that represses Hoxa1 transcription in cis. Genes Dev. 2013;27:1260-71 pubmed publisher
    ..Here, we used transcript counting and spatial localization to characterize a lncRNA (dubbed linc-HOXA1) located ?50 kb from the Hoxa gene cluster in mouse embryonic stem cells...
  21. Langston A, Thompson J, Gudas L. Retinoic acid-responsive enhancers located 3' of the Hox A and Hox B homeobox gene clusters. Functional analysis. J Biol Chem. 1997;272:2167-75 pubmed
    ..Thus, the Hoxa-1 and Hoxb-1 genes possess 3' enhancers with similar sequences through which their expression and responsiveness to endogenous retinoids are controlled. ..
  22. Wassef M, Chomette D, Pouilhe M, Stedman A, Havis E, Desmarquet Trin Dinh C, et al. Rostral hindbrain patterning involves the direct activation of a Krox20 transcriptional enhancer by Hox/Pbx and Meis factors. Development. 2008;135:3369-78 pubmed publisher
    ..We propose a model for the complex regulation of Krox20, involving a novel mode of initiation, positive and negative controls by Hox proteins, and multiple direct and indirect autoregulatory loops. ..
  23. Rabin M, Ferguson Smith A, Hart C, Ruddle F. Cognate homeo-box loci mapped on homologous human and mouse chromosomes. Proc Natl Acad Sci U S A. 1986;83:9104-8 pubmed
    ..We suggest these regions represent evolutionarily conserved genomic domains encoding homologous protein products that function in regulating patterns of mammalian development. ..
  24. Matt N, Schmidt C, Dupé V, Dennefeld C, Nau H, Chambon P, et al. Contribution of cellular retinol-binding protein type 1 to retinol metabolism during mouse development. Dev Dyn. 2005;233:167-76 pubmed
    ..Therefore, CRBP1 is required in prenatal life to maintain normal amounts of ROL and to ensure its efficient storage but seems of secondary importance for RA synthesis, at least under conditions of maternal vitamin A sufficiency. ..
  25. Fowlis G, Adelman S, Knight A, Simpson E. PCR-analyzed microsatellites of the mouse genome--additional polymorphisms among ten inbred mouse strains. Mamm Genome. 1992;3:192-6 pubmed
    ..This simple approach will, therefore, continue to be useful in genome mapping studies, leading eventually to high-resolution maps of both the mouse and human genomes; this should allow for physical mapping and cloning of specific genes. ..
  26. Rinon A, Lazar S, Marshall H, Büchmann Møller S, Neufeld A, Elhanany Tamir H, et al. Cranial neural crest cells regulate head muscle patterning and differentiation during vertebrate embryogenesis. Development. 2007;134:3065-75 pubmed
    ..We suggest that CNC cells control craniofacial development by regulating positional interactions with mesoderm-derived muscle progenitors that together shape the cranial musculoskeletal architecture in vertebrate embryos. ..
  27. Neijts R, Amin S, van Rooijen C, Deschamps J. Cdx is crucial for the timing mechanism driving colinear Hox activation and defines a trunk segment in the Hox cluster topology. Dev Biol. 2017;422:146-154 pubmed publisher
    ..Subsequently to initial Wnt-induced activation of 3' Hox genes, Cdx transcription factors would act as crucial effectors for activating central Hox genes, until the last gene of the cluster arrests the process. ..
  28. Kessel M. Reversal of axonal pathways from rhombomere 3 correlates with extra Hox expression domains. Neuron. 1993;10:379-93 pubmed
    ..Here r3 axons turned in the opposite direction and exited as facial nerves from r4. These changes of neuroectodermal fates indicate a linkage between axonal pathfinding and intrinsic neuronal specification by Hox codes. ..
  29. Dupé V, Davenne M, Brocard J, Dolle P, Mark M, Dierich A, et al. In vivo functional analysis of the Hoxa-1 3' retinoic acid response element (3'RARE). Development. 1997;124:399-410 pubmed
    ..Interestingly, although the RARE is not required for the spatiotemporal control of colinear expression of the Hoxa genes, it is absolutely required for correct Hoxa-2 expression in rhombomere 5. ..
  30. Tvrdik P, Capecchi M. Reversal of Hox1 gene subfunctionalization in the mouse. Dev Cell. 2006;11:239-50 pubmed
    In vertebrates, paralogous Hox genes play diverse biological roles. We examined the interchangeability of Hoxa1 and Hoxb1 in mouse development by swapping their protein-coding regions...
  31. Yamaguchi Y, Tanaka S, Kumagai M, Fujimoto Y, Terabayashi T, Matsui Y, et al. Sall4 is essential for mouse primordial germ cell specification by suppressing somatic cell program genes. Stem Cells. 2015;33:289-300 pubmed publisher
    ..In Sall4(del/del) PGC progenitors, somatic cell program genes (Hoxa1 and Hoxb1) were derepressed, while activation of the stem cell program was not impaired...
  32. McGrath K, Palis J. Expression of homeobox genes, including an insulin promoting factor, in the murine yolk sac at the time of hematopoietic initiation. Mol Reprod Dev. 1997;48:145-53 pubmed
    ..We hypothesize the early expression of insulin in the YS is required for the expansion of insulin responsive cells including primitive erythroblasts. ..
  33. Mollard R, Dziadek M. Homeobox genes from clusters A and B demonstrate characteristics of temporal colinearity and differential restrictions in spatial expression domains in the branching mouse lung. Int J Dev Biol. 1997;41:655-66 pubmed
    ..Such patterns of expression suggest that Hox genes play a role in the specification and maturation of lung cell lineage derivatives throughout the pseudoglandular, canalicular and terminal sac phases of lung development. ..
  34. Warnecke M, Oster H, Revelli J, Alvarez Bolado G, Eichele G. Abnormal development of the locus coeruleus in Ear2(Nr2f6)-deficient mice impairs the functionality of the forebrain clock and affects nociception. Genes Dev. 2005;19:614-25 pubmed
    ..We propose that neurons in the dorsal division of LC contribute to the regulation of the forebrain clock, at least in part, through targeted release of noradrenaline into the cortical area. ..
  35. Zakany J, Kmita M, Alarcon P, de la Pompa J, Duboule D. Localized and transient transcription of Hox genes suggests a link between patterning and the segmentation clock. Cell. 2001;106:207-17 pubmed
    ..These results suggest a molecular link between Hox gene activation and the segmentation clock. Such a linkage would efficiently keep in phase the production of novel segments with their morphological specification. ..
  36. Ford H. Homeobox genes: a link between development, cell cycle, and cancer?. Cell Biol Int. 1998;22:397-400 pubmed
  37. Makki N, Capecchi M. Hoxa1 lineage tracing indicates a direct role for Hoxa1 in the development of the inner ear, the heart, and the third rhombomere. Dev Biol. 2010;341:499-509 pubmed publisher
    Loss of Hoxa1 function results in severe defects of the brainstem, inner ear, and cranial ganglia in humans and mice as well as cardiovascular abnormalities in humans...
  38. Nakamura T, Jenkins N, Copeland N. Identification of a new family of Pbx-related homeobox genes. Oncogene. 1996;13:2235-42 pubmed
    ..The identification of two additional Meis genes identifies a new family of potential Hox cofactors as well as two new potential disease genes. ..
  39. Hong Y, Kim S, Bhattacharya A, Pratt D, Hong W, Tainsky M. Structure and function of the HOX A1 human homeobox gene cDNA. Gene. 1995;159:209-14 pubmed
    ..4-kb RA-sensitive HOX A4 (1.4) promoter-cat reporter. We found no effect of HOX A1 on the HOX A4 promoter. However, cotransfection of HOX A5 (1.3) was able to inhibit the HOX A4 promoter activity. ..
  40. Bernstein B, Kamal M, Lindblad Toh K, Bekiranov S, Bailey D, Huebert D, et al. Genomic maps and comparative analysis of histone modifications in human and mouse. Cell. 2005;120:169-81 pubmed
    ..This suggests that the DNA elements that direct the methylation represent only a small fraction of the region or lie at some distance from the site. ..
  41. Ruff J, Saffarini R, Ramoz L, Morrison L, Baker S, Laverty S, et al. Fitness Assays Reveal Incomplete Functional Redundancy of the HoxA1 and HoxB1 Paralogs of Mice. Genetics. 2015;201:727-36 pubmed publisher
    ..we discriminate between these hypotheses by competing mice (Mus musculus) whose Hoxb1 gene has been replaced by Hoxa1, its highly conserved paralog, against matched wild-type controls in seminatural enclosures...
  42. Sundin O, Busse H, Rogers M, Gudas L, Eichele G. Region-specific expression in early chick and mouse embryos of Ghox-lab and Hox 1.6, vertebrate homeobox-containing genes related to Drosophila labial. Development. 1990;108:47-58 pubmed
    ..In situ hybridization of Hox 1.6 probes to mouse embryos of day 7.5 or 8.0 indicate that the Hox 1.6 transcript has a temporal and spatial distribution very similar to that of Ghox-lab in the chick embryo. ..
  43. Scotti M, Kmita M. Recruitment of 5' Hoxa genes in the allantois is essential for proper extra-embryonic function in placental mammals. Development. 2012;139:731-9 pubmed publisher
    ..Finally, using a series of targeted recombination and transgenic assays, we provide evidence that the regulatory mechanism underlying Hoxa expression in the allantois is extremely complex and relies on several cis-regulatory sequences...
  44. Roux M, Laforest B, Eudes N, Bertrand N, Stefanovic S, Zaffran S. Hoxa1 and Hoxb1 are required for pharyngeal arch artery development. Mech Dev. 2017;143:1-8 pubmed publisher
    ..Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres from which neural crest cells emerge...
  45. Bertrand N, Roux M, Ryckebusch L, Niederreither K, Dolle P, Moon A, et al. Hox genes define distinct progenitor sub-domains within the second heart field. Dev Biol. 2011;353:266-74 pubmed publisher
    ..We have previously shown that Retinoic Acid (RA) signal participates to this patterning. We now show that Hoxb1, Hoxa1, and Hoxa3, as downstream RA targets, are expressed in distinct sub-domains within the SHF...
  46. Ye A, Kim H, Kim J. PEG3 control on the mammalian MSL complex. PLoS ONE. 2017;12:e0178363 pubmed publisher
    ..Overall, the current study reports that Peg3 may control its downstream genes through mammalian MSL. ..
  47. Rhinn M, Schuhbaur B, Niederreither K, Dolle P. Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatment. Proc Natl Acad Sci U S A. 2011;108:16687-92 pubmed publisher
    ..These results underscore the importance of maternal retinoids in preventing congenital birth defects, and lead to a revised model of the importance of RDH10 and RALDHs in controlling embryonic RA distribution...
  48. Li L, Liu B, Wapinski O, Tsai M, Qu K, Zhang J, et al. Targeted disruption of Hotair leads to homeotic transformation and gene derepression. Cell Rep. 2013;5:3-12 pubmed publisher
    ..Hotair inactivation causes H3K4me3 gain and, to a lesser extent, H3K27me3 loss at target genes. These results reveal the function and mechanisms of Hotair lncRNA in enforcing a silent chromatin state at Hox and additional genes. ..
  49. Vesque C, Anselme I, Couve E, Charnay P, Schneider Maunoury S. Cloning of vertebrate Protogenin (Prtg) and comparative expression analysis during axis elongation. Dev Dyn. 2006;235:2836-44 pubmed
    ..The initiation of Protogenin expression just before somitogenesis and its maintenance in the neural tube and paraxial mesoderm during this process suggest a conserved role in axis elongation. ..
  50. Vermot J, Niederreither K, Garnier J, Chambon P, Dolle P. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci U S A. 2003;100:1763-8 pubmed
  51. Ren S, Angrand P, Rijli F. Targeted insertion results in a rhombomere 2-specific Hoxa2 knockdown and ectopic activation of Hoxa1 expression. Dev Dyn. 2002;225:305-15 pubmed
    ..Moreover, Hoxa1 was ectopically expressed in the hindbrain and branchial arches of mutant embryos...
  52. Kim J, Park Y, Chung J, Stubbs L. The gene encoding sepiapterin reductase is located in central mouse chromosome 6. Mamm Genome. 1997;8:942 pubmed
  53. Hulander M, Wurst W, Carlsson P, Enerback S. The winged helix transcription factor Fkh10 is required for normal development of the inner ear. Nat Genet. 1998;20:374-6 pubmed
    ..These findings implicate Fkh10 as an early regulator necessary for development of both cochlea and vestibulum and identify its human homologue FKHL10 as a previously unknown candidate deafness gene at 5q34. ..
  54. Mark M, Lufkin T, Vonesch J, Ruberte E, Olivo J, Dolle P, et al. Two rhombomeres are altered in Hoxa-1 mutant mice. Development. 1993;119:319-38 pubmed
    ..This phenotype is compared with that of the Hoxa-1-/- mutants generated by O. Chisaka, T. S. Musci and M. R. Capecchi, 1992 (Nature 335, 516-520) and with that of the mice homozygous for the kreisler mutation. ..
  55. Li J, Tabor H, Nguyen L, Gleason C, Lotspeich L, Spiker D, et al. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Am J Med Genet. 2002;114:24-30 pubmed
    A recent report suggested that the HoxA1 and/or HoxB1 genes play a role in susceptibility to autism...
  56. Watrin F, Wolgemuth D. Conservation and divergence of patterns of expression and lineage-specific transcripts in orthologues and paralogues of the mouse Hox-1.4 gene. Dev Biol. 1993;156:136-45 pubmed
    ..4, Hox-1.3 and Hox-1.5, are expressed in the germ line but at lower levels. Further, both Hox-1.3 and Hox-1.4 produced unique, germ line-specific transcripts as compared to other adult tissues and the Day 12.5 embryo. ..
  57. Carpenter E, Goddard J, Chisaka O, Manley N, Capecchi M. Loss of Hox-A1 (Hox-1.6) function results in the reorganization of the murine hindbrain. Development. 1993;118:1063-75 pubmed
  58. Delval S, Taminiau A, Lamy J, Lallemand C, Gilles C, Noel A, et al. The Pbx interaction motif of Hoxa1 is essential for its oncogenic activity. PLoS ONE. 2011;6:e25247 pubmed publisher
    b>Hoxa1 belongs to the Hox family of homeodomain transcription factors involved in patterning embryonic territories and governing organogenetic processes...
  59. Barrow J, Capecchi M. Compensatory defects associated with mutations in Hoxa1 restore normal palatogenesis to Hoxa2 mutants. Development. 1999;126:5011-26 pubmed
    ..The loss of Hoxa1 or Hoxa2 function affects the development of multiple neural crest-derived structures...
  60. Billings S, Pierzchalski K, Butler Tjaden N, Pang X, Trainor P, KANE M, et al. The retinaldehyde reductase DHRS3 is essential for preventing the formation of excess retinoic acid during embryonic development. FASEB J. 2013;27:4877-89 pubmed publisher
    ..These data demonstrate that the reduction of retinaldehyde by DHRS3 is critical for preventing formation of excess ATRA during embryonic development...
  61. De Kumar B, Parker H, Paulson A, PARRISH M, Pushel I, Singh N, et al. HOXA1 and TALE proteins display cross-regulatory interactions and form a combinatorial binding code on HOXA1 targets. Genome Res. 2017;27:1501-1512 pubmed publisher
    i>Hoxa1 has diverse functional roles in differentiation and development. We identify and characterize properties of regions bound by HOXA1 on a genome-wide basis in differentiating mouse ES cells...
  62. Hunt P, Whiting J, Nonchev S, Sham M, Marshall H, Graham A, et al. The branchial Hox code and its implications for gene regulation, patterning of the nervous system and head evolution. Dev Suppl. 1991;Suppl 2:63-77 pubmed
    ..1 and Hox-2.8 genes in the developing nervous system, supporting our in situ analysis and the idea of a Hox code. These transgenic experiments are a useful step in examining regulation in the Hox cascade. ..
  63. Martinez Ceballos E, Gudas L. Hoxa1 is required for the retinoic acid-induced differentiation of embryonic stem cells into neurons. J Neurosci Res. 2008;86:2809-19 pubmed publisher
    ..body formation and all-trans-retinoic acid (RA, 5 microM) treatment (EB/5 microM RA) to test the ability of Hoxa1 null ES cells to adopt a neuronal fate...
  64. Hunt P, Gulisano M, Cook M, Sham M, Faiella A, Wilkinson D, et al. A distinct Hox code for the branchial region of the vertebrate head. Nature. 1991;353:861-4 pubmed
  65. Wang L, Zhang Z, Li Q, Yang R, Pei X, Xu Y, et al. Ethanol exposure induces differential microRNA and target gene expression and teratogenic effects which can be suppressed by folic acid supplementation. Hum Reprod. 2009;24:562-79 pubmed publisher
    ..were used to examine the effect of ethanol treatment on expression of the putative target genes of miR-10a (Hoxa1 and other Hox members) at mRNA and protein level...
  66. Sheikh B, Downer N, Kueh A, Thomas T, Voss A. Excessive versus physiologically relevant levels of retinoic acid in embryonic stem cell differentiation. Stem Cells. 2014;32:1451-8 pubmed publisher
    ..Our results demonstrate that using RA at physiologically relevant levels to study the activation of Hox genes, more accurately reflects the molecular events during the early phase of Hox gene activation in vivo. ..
  67. Fekete D. Development of the vertebrate ear: insights from knockouts and mutants. Trends Neurosci. 1999;22:263-9 pubmed
    ..Genes that are regionally expressed in the inner ear can, when absent or mutated, yield selective ablation of specific inner-ear structures or cell types. ..
  68. Wang H, Shun M, Dickson A, ENGELMAN A. Embryonic Lethality Due to Arrested Cardiac Development in Psip1/Hdgfrp2 Double-Deficient Mice. PLoS ONE. 2015;10:e0137797 pubmed publisher
    ..We accordingly speculate that deregulated Tgf-β signaling was a contributing factor to the VSD and prenatal lethality of Psip1/Hdgfrp2 double-deficient mice. ..
  69. Niederreither K, Subbarayan V, Dolle P, Chambon P. Embryonic retinoic acid synthesis is essential for early mouse post-implantation development. Nat Genet. 1999;21:444-8 pubmed
    ..Our data establish that RA synthesized by the post-implantation mammalian embryo is an essential developmental hormone whose lack leads to early embryo death. ..
  70. Dolle P, Lufkin T, Krumlauf R, Mark M, Duboule D, Chambon P. Local alterations of Krox-20 and Hox gene expression in the hindbrain suggest lack of rhombomeres 4 and 5 in homozygote null Hoxa-1 (Hox-1.6) mutant embryos. Proc Natl Acad Sci U S A. 1993;90:7666-70 pubmed
    ..These alterations coincide with the region that is subsequently affected in Hoxa-1 null mutant mice and suggest that the primary defects in this mutation are spatially restricted deletions of some rhombomeric structures. ..
  71. Makki N, Capecchi M. Cardiovascular defects in a mouse model of HOXA1 syndrome. Hum Mol Genet. 2012;21:26-31 pubmed publisher
    ..A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular ..
  72. Rossel M, Capecchi M. Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. Development. 1999;126:5027-40 pubmed
    The analysis of mice mutant for both Hoxa1 and Hoxb1 suggests that these two genes function together to pattern the hindbrain. Separately, mutations in Hoxa1 and Hoxb1 have profoundly different effects on hindbrain development...
  73. Boylan J, Lohnes D, Taneja R, Chambon P, Gudas L. Loss of retinoic acid receptor gamma function in F9 cells by gene disruption results in aberrant Hoxa-1 expression and differentiation upon retinoic acid treatment. Proc Natl Acad Sci U S A. 1993;90:9601-5 pubmed
    ..Our results support the idea that each RAR may regulate different subsets of RA-responsive genes, which may explain, in part, the complex regulation of developmental processes by retinoids. ..
  74. del Toro E, Borday V, Davenne M, Neun R, Rijli F, Champagnat J. Generation of a novel functional neuronal circuit in Hoxa1 mutant mice. J Neurosci. 2001;21:5637-42 pubmed
    ..The Hoxa1 gene is the earliest Hox gene expressed in the developing hindbrain. Moreover, it is rapidly downregulated...
  75. Mark M, Lufkin T, Dolle P, Dierich A, LeMeur M, Chambon P. Roles of Hox genes: what we have learnt from gain of function and loss of function mutations in the mouse. C R Acad Sci III. 1993;316:995-1008 pubmed
    ..Here, we discuss the phenotypes of two kinds of Hox mutant mice which show that vertebrate Hox genes are functional homologues of Drosophila genes of the HOM-C complex. ..
  76. Liu M, Zhao S, Lin Q, Wang X. YAP regulates the expression of Hoxa1 and Hoxc13 in mouse and human oral and skin epithelial tissues. Mol Cell Biol. 2015;35:1449-61 pubmed publisher
    ..We found that YAP regulates the expression of Hoxa1 and Hoxc13 in oral and dental epithelial tissues as well as in the epidermis of skin during embryonic and adult ..
  77. Baron A, Featherstone M, Hill R, Hall A, Galliot B, Duboule D. Hox-1.6: a mouse homeo-box-containing gene member of the Hox-1 complex. EMBO J. 1987;6:2977-86 pubmed
    ..6 transcripts were present both in embryonic total RNA and in embryonal carcinoma cell cytoplasmic RNA. These various transcripts are probably generated by an alternative splicing mechanism and may thus encode a set of related proteins. ..
  78. Chalepakis G, Wijnholds J, Giese P, Schachner M, Gruss P. Characterization of Pax-6 and Hoxa-1 binding to the promoter region of the neural cell adhesion molecule L1. DNA Cell Biol. 1994;13:891-900 pubmed
    ..On the basis of this sequence, we have characterized the binding of Pax-6 and explored two modes of its DNA binding activities. ..