Short stature homeobox gene

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.cite web | url = | title = SHOX - short stature homeobox - Genetics Home Reference | accessdate = 2008-02-18 | author = | authorlink = | coauthors = | date = 2005-09-01| format = | work = | publisher = U.S. National Library of Medicine | pages = | language = | archiveurl = | archivedate = | quote = ]

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.cite journal | author = Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G | title = 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 | journal = Horm. Res. | volume = 61 | issue = 5 | pages = 205–10 | year = 2004 | pmid = 14752208 | doi = 10.1159/000076532 | issn = ]


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.


Further reading

citations =
*cite journal | author=Bernasconi S, Mariani S, Falcinelli C, "et al." |title=SHOX gene in Leri-Weill syndrome and in idiopathic short stature. |journal=J. Endocrinol. Invest. |volume=24 |issue= 9 |pages= 737–41 |year= 2002 |pmid= 11716161 |doi=
*cite journal | author=Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E |title=Short stature and dysmorphology associated with defects in the SHOX gene. |journal=Hormones (Athens, Greece) |volume=5 |issue= 2 |pages= 107–18 |year= 2006 |pmid= 16807223 |doi=
*cite journal | author=Ballabio A, Bardoni B, Carrozzo R, "et al." |title=Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 24 |pages= 10001–5 |year= 1990 |pmid= 2602357 |doi=
*cite journal | author=Zuffardi O, Maraschio P, Lo Curto F, "et al." |title=The role of Yp in sex determination: new evidence from X/Y translocations. |journal=Am. J. Med. Genet. |volume=12 |issue= 2 |pages= 175–84 |year= 1982 |pmid= 6954848 |doi= 10.1002/ajmg.1320120207
*cite journal | author=Kuznetzova T, Baranov A, Ivaschenko T, "et al." |title=X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. |journal=J. Med. Genet. |volume=31 |issue= 8 |pages= 649–51 |year= 1995 |pmid= 7815426 |doi=
*cite journal | author=Ogata T, Yoshizawa A, Muroya K, "et al." |title=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=J. Med. Genet. |volume=32 |issue= 10 |pages= 831–4 |year= 1996 |pmid= 8558568 |doi=
*cite journal | author=Rao E, Weiss B, Fukami M, "et al." |title=Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. |journal=Nat. Genet. |volume=16 |issue= 1 |pages= 54–63 |year= 1997 |pmid= 9140395 |doi= 10.1038/ng0597-54
*cite journal | author=Rao E, Weiss B, Fukami M, "et al." |title=FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. |journal=Hum. Genet. |volume=100 |issue= 2 |pages= 236–9 |year= 1997 |pmid= 9254856 |doi=
*cite journal | author=Ellison JW, Wardak Z, Young MF, "et al." |title=PHOG, a candidate gene for involvement in the short stature of Turner syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1341–7 |year= 1997 |pmid= 9259282 |doi=
*cite journal | author=Belin V, Cusin V, Viot G, "et al." |title=SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). |journal=Nat. Genet. |volume=19 |issue= 1 |pages= 67–9 |year= 1998 |pmid= 9590292 |doi= 10.1038/ng0198-67
*cite journal | author=Shears DJ, Vassal HJ, Goodman FR, "et al." |title=Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. |journal=Nat. Genet. |volume=19 |issue= 1 |pages= 70–3 |year= 1998 |pmid= 9590293 |doi= 10.1038/ng0198-70
*cite journal | author=Grigelioniene G, Eklöf O, Ivarsson SA, "et al." |title=Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. |journal=Hum. Genet. |volume=107 |issue= 2 |pages= 145–9 |year= 2000 |pmid= 11030412 |doi=
*cite journal | author=Huber C, Cusin V, Le Merrer M, "et al." |title=SHOX point mutations in dyschondrosteosis. |journal=J. Med. Genet. |volume=38 |issue= 5 |pages= 323 |year= 2001 |pmid= 11403039 |doi=
*cite journal | author=Rao E, Blaschke RJ, Marchini A, "et al." |title=The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. |journal=Hum. Mol. Genet. |volume=10 |issue= 26 |pages= 3083–91 |year= 2002 |pmid= 11751690 |doi=
*cite journal | author=Ezquieta B, Cueva E, Oliver A, Gracia R |title=SHOX intragenic microsatellite analysis in patients with short stature. |journal=J. Pediatr. Endocrinol. Metab. |volume=15 |issue= 2 |pages= 139–48 |year= 2002 |pmid= 11874178 |doi=
*cite journal | author=Ogata T, Muroya K, Sasaki G, "et al." |title=SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue= 3 |pages= 1390–4 |year= 2002 |pmid= 11889214 |doi=
*cite journal | author=Rappold GA, Fukami M, Niesler B, "et al." |title=Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue= 3 |pages= 1402–6 |year= 2002 |pmid= 11889216 |doi=
*cite journal | author=Cormier-Daire V, Huber C, Munnich A |title=Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). |journal=Am. J. Med. Genet. |volume=106 |issue= 4 |pages= 272–4 |year= 2002 |pmid= 11891678 |doi=
*cite journal | author=May CA, Shone AC, Kalaydjieva L, "et al." |title=Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. |journal=Nat. Genet. |volume=31 |issue= 3 |pages= 272–5 |year= 2002 |pmid= 12089524 |doi= 10.1038/ng918

External links


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