Homeobox A1

Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.[5][6][7]

HOXA1
Identifiers
AliasesHOXA1, BSAS, HOX1, HOX1F, Homeobox A1
External IDsOMIM: 142955 MGI: 96170 HomoloGene: 4032 GeneCards: HOXA1
Orthologs
SpeciesHumanMouse
Entrez

3198

15394

Ensembl

ENSG00000105991

ENSMUSG00000029844

UniProt

P49639

P09022

RefSeq (mRNA)

NM_153620
NM_005522

NM_010449
NM_001311118

RefSeq (protein)

NP_005513
NP_705873

n/a

Location (UCSC)Chr 7: 27.09 – 27.1 MbChr 6: 52.13 – 52.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.[8]

Function

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and cellular differentiation. The homeobox protein Hox-A1 may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development.[8]

Clinical significance

A common polymorphism in the HOXA1 gene is associated with a susceptibility to autism spectrum disorder, with individuals possessing these gene variant have an approximately doubled risk of developing the disorder.[9] Studies on knockout mice have indicated that the gene can alter embryological development of the brain stem (specifically the facial and superior olivary nuclei), as well as induce several other physical changes such as in ear shape.[10] Both of these sets of changes can also be seen in patients with autism.

Other HOXA1 mutations are associated with Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS).[11]

Regulation

The HOXA1 gene is repressed by the microRNA miR-10a.[12]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000105991 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000029844 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Hong YS, Kim SY, Bhattacharya A, Pratt DR, Hong WK, Tainsky MA (July 1995). "Structure and function of the HOX A1 human homeobox gene cDNA". Gene. 159 (2): 209–14. doi:10.1016/0378-1119(95)92712-G. PMID 7622051.
  6. Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.
  7. McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  8. "Entrez Gene: HOXA1 homeobox A1".
  9. Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM (December 2000). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders". Teratology. 62 (6): 393–405. doi:10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID 11091361.
  10. Rodier, Patricia (February 2000). "The Early Origins of Autism". Scientific American. 282 (2): 56–63. Bibcode:2000SciAm.282b..56R. doi:10.1038/scientificamerican0200-56. PMID 10710787.
  11. Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP (May 2008). "The clinical spectrum of homozygous HOXA1 mutations". American Journal of Medical Genetics Part A. 146A (10): 1235–40. doi:10.1002/ajmg.a.32262. PMC 3517166. PMID 18412118.
  12. Garzon R, Pichiorri F, Palumbo T, Iuliano R, Cimmino A, Aqeilan R, Volinia S, Bhatt D, Alder H, Marcucci G, Calin GA, Liu CG, Bloomfield CD, Andreeff M, Croce CM (March 2006). "MicroRNA fingerprints during human megakaryocytopoiesis". Proceedings of the National Academy of Sciences of the United States of America. 103 (13): 5078–83. Bibcode:2006PNAS..103.5078G. doi:10.1073/pnas.0600587103. PMC 1458797. PMID 16549775.

Further reading

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