Short-stature homeobox gene

Source: Wikipedia, the free encyclopedia.
SHOX
Identifiers
AliasesSHOX, GCFX, PHOG, SHOXY, SS, short stature homeobox
External IDsOMIM: 312865, 400020 HomoloGene: 55463 GeneCards: SHOX
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

NP_000442
NP_006874

n/a

Location (UCSC)n/an/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 idiopathic short stature, 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 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

  1. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. ^ 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.
  3. ^ 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. PMID 14752208. S2CID 41958098.
  4. ^ Raudsepp T, Chowdhary BP (2015). "The Eutherian Pseudoautosomal Region". Cytogenetic and Genome Research. 147 (2–3): 81–94. doi:10.1159/000443157. hdl:10576/22940. PMID 26730606.

Further reading

External links