Theshort-stature homeobox gene (SHOX), also known asshort-stature-homeobox-containing gene, is agene located on both theX andY chromosomes, which is associated withshort stature in humans if mutated or present in only one copy (haploinsufficiency).
SHOX was first found during a search for the cause of short stature in women withTurner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome.[2]
SHOX is composed of 6 differentexons and is located in thepseudoautosomal region 1 (PAR1) of the X chromosome (Xp22.33) and Y chromosome.[2] Since genes in PAR escapeX inactivation, their dosage changes with sex chromosome aneuploidies such as Turner.[4]
Similar genes are present in a variety of animals and insects.
It is ahomeobox gene, meaning that it helps to regulate development.
^Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, et al. (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".Hormone Research.61 (5):205–10.doi:10.1159/000076532.PMID14752208.S2CID41958098.
Bernasconi S, Mariani S, Falcinelli C, Milioli S, Iughetti L, Forabosco A (October 2001). "SHOX gene in Leri-Weill syndrome and in idiopathic short stature".Journal of Endocrinological Investigation.24 (9):737–41.doi:10.1007/bf03343919.hdl:11380/613021.PMID11716161.S2CID44532326.
Zuffardi O, Maraschio P, Lo Curto F, Müller U, Giarola A, Perotti L (June 1982). "The role of Yp in sex determination: new evidence from X/Y translocations".American Journal of Medical Genetics.12 (2):175–84.doi:10.1002/ajmg.1320120207.PMID6954848.
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. (May 1997). "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome".Nature Genetics.16 (1):54–63.doi:10.1038/ng0597-54.PMID9140395.S2CID26248561.
Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, et al. (August 1997). "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.doi:10.1007/s004390050497.PMID9254856.S2CID33963012.
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, et al. (May 1998). "SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)".Nature Genetics.19 (1):67–9.doi:10.1038/ng0198-67.PMID9590292.S2CID45129174.
Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, et al. (May 1998). "Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis".Nature Genetics.19 (1):70–3.doi:10.1038/ng0198-70.PMID9590293.S2CID25651344.
Grigelioniene G, Eklöf O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, et al. (August 2000). "Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia".Human Genetics.107 (2):145–9.doi:10.1007/s004390000352.PMID11030412.S2CID27508795.
Ezquieta B, Cueva E, Oliver A, Gracia R (February 2002). "SHOX intragenic microsatellite analysis in patients with short stature".Journal of Pediatric Endocrinology & Metabolism.15 (2):139–48.doi:10.1515/jpem.2002.15.2.139.PMID11874178.S2CID46138078.
Cormier-Daire V, Huber C, Munnich A (2002). "Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)".American Journal of Medical Genetics.106 (4):272–4.doi:10.1002/ajmg.10228.PMID11891678.
May CA, Shone AC, Kalaydjieva L, Sajantila A, Jeffreys AJ (July 2002). "Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX".Nature Genetics.31 (3):272–5.doi:10.1038/ng918.PMID12089524.S2CID30559742.
