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).
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]
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.
↑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. PMID14752208.
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. PMID11716161.
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. PMID16807223.
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. PMID6954848.
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. PMID9140395.
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. PMID9254856.
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. PMID9259282.
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. PMID9590293.
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. PMID11030412.
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. PMID11751690.
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. PMID11874178.
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. PMID11889214.
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. PMID11889216.
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. PMID11891678.
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. PMID12089524.