HOXA13 explained

Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.^{[1] [2] [3]}

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 differentiation.^[3]

Clinical significance

Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome, also known as hand-foot-uterus syndrome.^[4] Aberrant expression of HoxA13 gene products in the esophagus, provokes Barrett’s esophagus, a form of metaplasia that is a direct precursor to esophageal cancer.^[5]

See also

• Homeobox

Further reading

• Goodman FR, Scambler PJ . Human HOX gene mutations . Clinical Genetics . 59 . 1 . 1–11 . January 2001 . 11206481 . 10.1034/j.1399-0004.2001.590101.x . 38364372 .
• Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M . A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? . Human Genetics . 110 . 5 . 488–494 . May 2002 . 12073020 . 10.1007/s00439-002-0712-8 . 22181414 .
• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E . The human HOX gene family . Nucleic Acids Research . 17 . 24 . 10385–10402 . December 1989 . 2574852 . 335308 . 10.1093/nar/17.24.10385 .
• Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B . Fine mapping of human HOX gene clusters . Cytogenetics and Cell Genetics . 73 . 1–2 . 114–115 . 1996 . 8646877 . 10.1159/000134320 .
• Mortlock DP, Innis JW . Mutation of HOXA13 in hand-foot-genital syndrome . Nature Genetics . 15 . 2 . 179–180 . February 1997 . 9020844 . 10.1038/ng0297-179 . 24522600 .
• Toward a complete human genome sequence . Genome Research . 8 . 11 . 1097–1108 . November 1998 . 9847074 . 10.1101/gr.8.11.1097 . free . ((Sanger Centre)), ((Washington University Genome Sequencing Center)) .
• Post LC, Innis JW . Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures . Biology of Reproduction . 61 . 6 . 1402–1408 . December 1999 . 10569982 . 10.1095/biolreprod61.6.1402 . free .
• de Stanchina E, Gabellini D, Norio P, Giacca M, Peverali FA, Riva S, Falaschi A, Biamonti G . Selection of homeotic proteins for binding to a human DNA replication origin . Journal of Molecular Biology . 299 . 3 . 667–680 . June 2000 . 10835276 . 10.1006/jmbi.2000.3782 .
• Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ . Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome . American Journal of Human Genetics . 67 . 1 . 197–202 . July 2000 . 10839976 . 1287077 . 10.1086/302961 .
• Zhao Y, Potter SS . Functional specificity of the Hoxa13 homeobox . Development . 128 . 16 . 3197–3207 . August 2001 . 11688568 . 10.1242/dev.128.16.3197 . free .
• Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T . Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15) . Blood . 99 . 4 . 1428–1433 . February 2002 . 11830496 . 10.1182/blood.V99.4.1428 . free .
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N . Complete mutation analysis panel of the 39 human HOX genes . Teratology . 65 . 2 . 50–62 . February 2002 . 11857506 . 10.1002/tera.10009 .
• Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE . A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome . Human Mutation . 19 . 5 . 573–574 . May 2002 . 11968094 . 10.1002/humu.9036 . 26468280 . free . 2027.42/35180 . free .
• Taketani T, Taki T, Ono R, Kobayashi Y, Ida K, Hayashi Y . The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9 . Genes, Chromosomes & Cancer . 34 . 4 . 437–443 . August 2002 . 12112533 . 10.1002/gcc.10077 . 20992707 . free .
• Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR . Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 . Journal of Medical Genetics . 39 . 11 . 852–856 . November 2002 . 12414828 . 1735011 . 10.1136/jmg.39.11.852 .

External links

• GeneReviews/NCBI/NIH/UW entry on Hand-Foot-Genital Syndrome

Notes and References

1. McAlpine PJ, Shows TB . Nomenclature for human homeobox genes . Genomics . 7 . 3 . 460 . July 1990 . 1973146 . 10.1016/0888-7543(90)90186-X .
2. Scott MP . Vertebrate homeobox gene nomenclature . Cell . 71 . 4 . 551–553 . November 1992 . 1358459 . 10.1016/0092-8674(92)90588-4 . 13370372 .
3. Web site: Entrez Gene: HOXA13 homeobox A13.
4. Book: Innis JW . Hand-Foot-Genital Syndrome . University of Washington, Seattle . 2006-07-11 . NCBI Bookshelf, GeneReviews. 20301596 .
5. Janmaat VT, Nesteruk K, Spaander MC, Verhaar AP, Yu B, Silva RA, Phillips WA, Magierowski M, van de Winkel A, Stadler HS, Sandoval-Guzmán T, van der Laan LJ, Kuipers EJ, Smits R, Bruno MJ, Fuhler GM, Clemons NJ, Peppelenbosch MP . HOXA13 in etiology and oncogenic potential of Barrett's esophagus . Nature Communications . 12 . 1 . 3354 . June 2021 . 34099670 . 8184780 . 10.1038/s41467-021-23641-8 . free . 2021NatCo..12.3354J .