Biology:Short stature homeobox gene
 Generic protein structure example |
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]
Genetics
The SHOX gene is composed of 6 different exons and is located in the pseudoautosomal region (PAR1) of the X chromosome (Xp22.33) and Y chromosome.[1] Similar genes are present in a variety of animals and insects.
Function
The SHOX gene is a homeobox gene, meaning that it helps 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. Retrieved 2008-02-18.
- ↑ "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. 2004. doi:10.1159/000076532. PMID 14752208.
Further reading
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
 |
