Short stature homeobox gene
From Wikipedia, the free encyclopedia
Short stature homeobox gene or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). 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. 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. (Kanaka-Gantenbein et al. 2004).
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. Experiments have found similar genes in a variety of animals and insects.
[edit] References
- Mendelian Inheritance in Man (OMIM) 312865
- SHOX - Genetics Home Reference
- 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. 61:205-10. PMID 14752208
