Biology:Short-stature homeobox gene
From HandWiki
Short description: Mammalian protein found in Homo sapiens
 Generic protein structure example |
The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing 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
SHOX was first found during a search for the cause of short stature in women with Turner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome.[1]
Since its discovery, the gene has been found to play a role in idiopathic short stature, 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 triple X, XYY, Klinefelter, XXYY and similar syndromes.[2]
Genetics and function
SHOX is composed of 6 different exons and is located in the pseudoautosomal region 1 (PAR1) of the X chromosome (Xp22.33) and Y chromosome.[1] Since genes in PAR escape X inactivation, their dosage changes with sex chromosome aneuploidies such as Turner.[3]
Similar genes are present in a variety of animals and insects.
It is a homeobox gene, meaning that it helps to regulate development.
References
- ↑ 1.0 1.1 "SHOX - short stature homeobox - Genetics Home Reference". U.S. National Library of Medicine. 2005-09-01. http://ghr.nlm.nih.gov/gene=shox.
- ↑ "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". Hormone Research 61 (5): 205–10. 2004. doi:10.1159/000076532. PMID 14752208.
- ↑ "The Eutherian Pseudoautosomal Region" (in english). Cytogenetic and Genome Research 147 (2–3): 81–94. 2015. doi:10.1159/000443157. PMID 26730606. https://www.karger.com/Article/FullText/443157.
Further reading
- "SHOX gene in Leri-Weill syndrome and in idiopathic short stature". Journal of Endocrinological Investigation 24 (9): 737–41. October 2001. doi:10.1007/bf03343919. PMID 11716161.
- "Short stature and dysmorphology associated with defects in the SHOX gene". Hormones 5 (2): 107–18. 2006. doi:10.14310/horm.2002.11174. PMID 16807223.
- "Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome". Proceedings of the National Academy of Sciences of the United States of America 86 (24): 10001–5. December 1989. doi:10.1073/pnas.86.24.10001. PMID 2602357. Bibcode: 1989PNAS...8610001B.
- "The role of Yp in sex determination: new evidence from X/Y translocations". American Journal of Medical Genetics 12 (2): 175–84. June 1982. doi:10.1002/ajmg.1320120207. PMID 6954848.
- "X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies". Journal of Medical Genetics 31 (8): 649–51. August 1994. doi:10.1136/jmg.31.8.649. PMID 7815426.
- "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)". Journal of Medical Genetics 32 (10): 831–4. October 1995. doi:10.1136/jmg.32.10.831. PMID 8558568.
- "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome". Nature Genetics 16 (1): 54–63. May 1997. doi:10.1038/ng0597-54. PMID 9140395.
- "FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes". Human Genetics 100 (2): 236–9. August 1997. doi:10.1007/s004390050497. PMID 9254856.
- "PHOG, a candidate gene for involvement in the short stature of Turner syndrome". Human Molecular Genetics 6 (8): 1341–7. August 1997. doi:10.1093/hmg/6.8.1341. PMID 9259282.
- "SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)". Nature Genetics 19 (1): 67–9. May 1998. doi:10.1038/ng0198-67. PMID 9590292.
- "Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis". Nature Genetics 19 (1): 70–3. May 1998. doi:10.1038/ng0198-70. PMID 9590293.
- "Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia". Human Genetics 107 (2): 145–9. August 2000. doi:10.1007/s004390000352. PMID 11030412.
- "SHOX point mutations in dyschondrosteosis". Journal of Medical Genetics 38 (5): 323. May 2001. doi:10.1136/jmg.38.5.323. PMID 11403039.
- "The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator". Human Molecular Genetics 10 (26): 3083–91. December 2001. doi:10.1093/hmg/10.26.3083. PMID 11751690.
- "SHOX intragenic microsatellite analysis in patients with short stature". Journal of Pediatric Endocrinology & Metabolism 15 (2): 139–48. February 2002. doi:10.1515/jpem.2002.15.2.139. PMID 11874178.
- "SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features". The Journal of Clinical Endocrinology and Metabolism 87 (3): 1390–4. March 2002. doi:10.1210/jcem.87.3.8348. PMID 11889214.
- "Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature". The Journal of Clinical Endocrinology and Metabolism 87 (3): 1402–6. March 2002. doi:10.1210/jcem.87.3.8328. PMID 11889216.
- "Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)". American Journal of Medical Genetics 106 (4): 272–4. 2002. doi:10.1002/ajmg.10228. PMID 11891678.
- "Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX". Nature Genetics 31 (3): 272–5. July 2002. 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
 |  |
