Homeobox A1

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Homeobox A1
Identifiers
Symbols HOXA1 ; BSAS; HOX1; HOX1F
External IDs OMIM142955 MGI96170 HomoloGene4032 ChEMBL: 4950 GeneCards: HOXA1 Gene
RNA expression pattern
PBB GE HOXA1 214639 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3198 15394
Ensembl ENSG00000105991 ENSMUSG00000029844
UniProt P49639 P09022
RefSeq (mRNA) NM_005522 NM_010449
RefSeq (protein) NP_005513 NP_034579
Location (UCSC) Chr 7:
27.13 – 27.14 Mb
Chr 6:
52.16 – 52.16 Mb
PubMed search [1] [2]

Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.[1][2][3]

Gene[edit]

Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.[4]

Function[edit]

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.[4]

Clinical significance[edit]

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. [5] 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. [6] 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).[7]

Regulation[edit]

The HOXA1 gene is repressed by the microRNA miR-10a.[8]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenet. Cell Genet. 73 (1-2): 114–5. doi:10.1159/000134320. PMID 8646877. 
  3. ^ McAlpine PJ, Shows TB (Aug 1990). "Nomenclature for human homeobox genes". Genomics 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146. 
  4. ^ a b "Entrez Gene: HOXA1 homeobox A1". 
  5. ^ 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. 
  6. ^ Rodier, Patricia (February 2000). "The Early Origins of Autism". Scientific American. 
  7. ^ 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". Am. J. Med. Genet. A 146A (10): 1235–40. doi:10.1002/ajmg.a.32262. PMC 3517166. PMID 18412118. 
  8. ^ Garzon R, Pichiorri F, Palumbo T, Iuliano R, Cimmino A, Aqeilan R et al. (2006). "MicroRNA fingerprints during human megakaryocytopoiesis.". Proc Natl Acad Sci U S A 103 (13): 5078–83. doi:10.1073/pnas.0600587103. PMC 1458797. PMID 16549775. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.