Short stature homeobox gene
| Short stature homeobox | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SHOX ; GCFX; PHOG; SHOXY; SS | ||||||||||||
| External IDs | OMIM: 400020 HomoloGene: 55463 GeneCards: SHOX Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 6473 | n/a | |||||||||||
| Ensembl | ENSG00000185960 | n/a | |||||||||||
| UniProt | O15266 | n/a | |||||||||||
| RefSeq (mRNA) | NM_000451 | n/a | |||||||||||
| RefSeq (protein) | NP_000442 | n/a | |||||||||||
| Location (UCSC) | Chr X: 0.59 – 0.62 Mb | n/a | |||||||||||
| PubMed search | n/a | ||||||||||||
The short stature homeobox (SHOX) gene is a gene, located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
Pathology
The gene was first found during a search for the cause of short stature in women with Turner syndrome, in which there is loss of genetic material from the X chromosome, classically by loss of one entire X chromosome.[1]
Since its discovery, the SHOX gene has been found to play a role in idiopathic short stature (short stature of unknown cause without other symptoms), Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as 47,XXX, 47,XYY, 47,XXY, 48,XXYY, etc.[2]
Function
The SHOX gene is a homeobox gene, meaning that it helps regulate development. The SHOX gene is composed of 6 different exons and is located in the pseudoautosomal region (PAR1) of the X chromosome and Y chromosome.[1] Experiments have found similar genes in a variety of animals and insects.
References
- ↑ 1.0 1.1 "SHOX - short stature homeobox - Genetics Home Reference". U.S. National Library of Medicine. 2005-09-01. Retrieved 2008-02-18.
- ↑ Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G (2004). "Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes". Horm. Res. 61 (5): 205–10. doi:10.1159/000076532. PMID 14752208.
Further reading
- Bernasconi S, Mariani S, Falcinelli C et al. (2002). "SHOX gene in Leri-Weill syndrome and in idiopathic short stature.". J. Endocrinol. Invest. 24 (9): 737–41. doi:10.1007/bf03343919. PMID 11716161.
- Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E (2006). "Short stature and dysmorphology associated with defects in the SHOX gene.". Hormones (Athens, Greece) 5 (2): 107–18. doi:10.14310/horm.2002.11174. PMID 16807223.
- Ballabio A, Bardoni B, Carrozzo R et al. (1990). "Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.". Proc. Natl. Acad. Sci. U.S.A. 86 (24): 10001–5. doi:10.1073/pnas.86.24.10001. PMC 298630. PMID 2602357.
- Zuffardi O, Maraschio P, Lo Curto F et al. (1982). "The role of Yp in sex determination: new evidence from X/Y translocations.". Am. J. Med. Genet. 12 (2): 175–84. doi:10.1002/ajmg.1320120207. PMID 6954848.
- Kuznetzova T, Baranov A, Ivaschenko T et al. (1995). "X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.". J. Med. Genet. 31 (8): 649–51. doi:10.1136/jmg.31.8.649. PMC 1050031. PMID 7815426.
- Ogata T, Yoshizawa A, Muroya K et al. (1996). "Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).". J. Med. Genet. 32 (10): 831–4. doi:10.1136/jmg.32.10.831. PMC 1051714. PMID 8558568.
- Rao E, Weiss B, Fukami M et al. (1997). "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.". Nat. Genet. 16 (1): 54–63. doi:10.1038/ng0597-54. PMID 9140395.
- Rao E, Weiss B, Fukami M et al. (1997). "FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.". Hum. Genet. 100 (2): 236–9. doi:10.1007/s004390050497. PMID 9254856.
- Ellison JW, Wardak Z, Young MF et al. (1997). "PHOG, a candidate gene for involvement in the short stature of Turner syndrome.". Hum. Mol. Genet. 6 (8): 1341–7. doi:10.1093/hmg/6.8.1341. PMID 9259282.
- Belin V, Cusin V, Viot G et al. (1998). "SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).". Nat. Genet. 19 (1): 67–9. doi:10.1038/ng0198-67. PMID 9590292.
- Shears DJ, Vassal HJ, Goodman FR et al. (1998). "Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.". Nat. Genet. 19 (1): 70–3. doi:10.1038/ng0198-70. PMID 9590293.
- Grigelioniene G, Eklöf O, Ivarsson SA et al. (2000). "Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.". Hum. Genet. 107 (2): 145–9. doi:10.1007/s004390000352. PMID 11030412.
- Huber C, Cusin V, Le Merrer M et al. (2001). "SHOX point mutations in dyschondrosteosis.". J. Med. Genet. 38 (5): 323. doi:10.1136/jmg.38.5.323. PMC 1734877. PMID 11403039.
- Rao E, Blaschke RJ, Marchini A et al. (2002). "The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.". Hum. Mol. Genet. 10 (26): 3083–91. doi:10.1093/hmg/10.26.3083. PMID 11751690.
- Ezquieta B, Cueva E, Oliver A, Gracia R (2002). "SHOX intragenic microsatellite analysis in patients with short stature.". J. Pediatr. Endocrinol. Metab. 15 (2): 139–48. doi:10.1515/jpem.2002.15.2.139. PMID 11874178.
- Ogata T, Muroya K, Sasaki G et al. (2002). "SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.". J. Clin. Endocrinol. Metab. 87 (3): 1390–4. doi:10.1210/jc.87.3.1390. PMID 11889214.
- Rappold GA, Fukami M, Niesler B et al. (2002). "Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.". J. Clin. Endocrinol. Metab. 87 (3): 1402–6. doi:10.1210/jc.87.3.1402. PMID 11889216.
- Cormier-Daire V, Huber C, Munnich A (2002). "Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).". Am. J. Med. Genet. 106 (4): 272–4. doi:10.1002/ajmg.10228. PMID 11891678.
- May CA, Shone AC, Kalaydjieva L et al. (2002). "Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.". Nat. Genet. 31 (3): 272–5. doi:10.1038/ng918. PMID 12089524.
External links
- short stature homeobox protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReview/NCBI/NIH/UW entry on SHOX-Related Haploinsufficiency Disorders