Short-stature homeobox gene

SHOX
Identifiers
Gene ontology
Molecular function	DNA-binding transcription factor activity; DNA binding; protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; nucleoplasm; intracellular membrane-bounded organelle;
Biological process	multicellular organism development; skeletal system development; regulation of transcription, DNA-templated; transcription by RNA polymerase II; transcription, DNA-templated; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO

Ensembl


ENSG00000185960


n/a

UniProt


O15266


n/a

RefSeq (mRNA)


n/a


n/a

RefSeq (protein)


NP_000442 NP_006874


n/a

Location (UCSC)

n/a

PubMed search

^[1]

n/a

Wikidata

View/Edit Human

The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing 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

SHOX was first found during a search for the cause of short stature in women with Turner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome.^[2]

Since its discovery, the gene has been found to play a role in

Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia

.

triple X, XYY, Klinefelter, XXYY and similar syndromes.^[3]

Genetics and function

SHOX is composed of 6 different exons and is located in the pseudoautosomal region 1 (PAR1) of the X chromosome (Xp22.33) and Y chromosome.^[2] Since genes in PAR escape X 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 a homeobox gene, meaning that it helps to regulate development.

References

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "SHOX - short stature homeobox - Genetics Home Reference". U.S. National Library of Medicine. 2005-09-01. Archived from the original on 2007-10-12. Retrieved 2008-02-18.
S2CID 41958098
.

PMID 26730606
.

Further reading

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.
S2CID 44532326
.

Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E (2006). "Short stature and dysmorphology associated with defects in the SHOX gene". Hormones. 5 (2): 107–18.
PMID 16807223
.

Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, et al. (December 1989). "Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome". Proceedings of the National Academy of Sciences of the United States of America. 86 (24): 10001–5.
PMID 2602357
.

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.
PMID 6954848
.

Kuznetzova T, Baranov A, Ivaschenko T, Savitsky GA, Lanceva OE, Wang MR, et al. (August 1994). "X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies". Journal of Medical Genetics. 31 (8): 649–51.
PMID 7815426
.

Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G, Yokoya S (October 1995). "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 of Medical Genetics. 32 (10): 831–4.
PMID 8558568
.

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.
S2CID 26248561
.

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.
S2CID 33963012
.

Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W (August 1997). "PHOG, a candidate gene for involvement in the short stature of Turner syndrome". Human Molecular Genetics. 6 (8): 1341–7.
PMID 9259282
.

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.
S2CID 45129174
.

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.
S2CID 25651344
.

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.
S2CID 27508795
.

Huber C, Cusin V, Le Merrer M, Mathieu M, Sulmont V, Dagoneau N, et al. (May 2001). "SHOX point mutations in dyschondrosteosis". Journal of Medical Genetics. 38 (5): 323.
PMID 11403039
.

Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA (December 2001). "The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator". Human Molecular Genetics. 10 (26): 3083–91.
PMID 11751690
.

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.
S2CID 46138078
.

Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T (March 2002). "SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features". The Journal of Clinical Endocrinology and Metabolism. 87 (3): 1390–4.
PMID 11889214
.

Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, et al. (March 2002). "Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature". The Journal of Clinical Endocrinology and Metabolism. 87 (3): 1402–6.
PMID 11889216
.

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.
PMID 11891678
.

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.
S2CID 30559742
.

External links

short+stature+homeobox+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

GeneReview/NCBI/NIH/UW entry on SHOX-Related Haploinsufficiency Disorders

Retrieved from "https://en.wikipedia.org/w/index.php?title=Short-stature_homeobox_gene&oldid=1193534740"

[1] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[NIHSHOX-2] "SHOX - short stature homeobox - Genetics Home Reference". U.S. National Library of Medicine. 2005-09-01. Archived from the original on 2007-10-12. Retrieved 2008-02-18.

[pmid14752208-3] S2CID 41958098
.

[4] PMID 26730606
.

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