SHOX
| Short stature homeobox | ||
|---|---|---|
| Properties of human protein | ||
| Isoforms | SHOXA, SHOXB | |
| Identifier | ||
| Gene name | SHOX | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Coelomata | |
| Orthologue | ||
| human | Domestic dog | |
| Entrez | 6473 | 491706 |
| Ensemble | ENSG00000185960 | ENSCAFG00000010966 |
| UniProt | O15266 | Q4KPC9 |
| Refseq (mRNA) | NM_000451 | XM_850533 |
| Refseq (protein) | NP_000442 | XP_855626 |
| Gene locus | Chr X: 0.51 - 0.53 Mb | Chr X: 0.38 - 0.39 Mb |
| PubMed search | 6473 |
491706
|
Short stature homeobox gene or SHOX is a gene on the X and Y chromosomes . Mutations in SHOX or the presence of only one copy in the genome ( haploinsufficiency ) are associated with short stature in humans .
function
The SHOX gene is a homeobox gene. These are genes that are important for the organization of the body in embryonic development . The SHOX gene consists of 6 different exons and is located in the pseudoautosomal region (PAR1) of the X and Y chromosomes. Homologous genes have been found in different animals.
pathology
This gene was discovered during research into the genetics of Turner syndrome . In this disease there is a loss of genetic material from the X chromosome, typically due to a lack of the entire X chromosome.
After its discovery, it was found that SHOX also plays a role in other diseases that are associated with short stature. These are above all Léri Weill's dyschondrosteosis and Langer's mesomelic dysplasia .
Gene dose effects of additional SHOX copies may play a role in the development of tall stature in other aneuploidies of the sex chromosomes such as triplo-X syndrome , XYY syndrome , Klinefelter syndrome , 48, XXYY syndrome, etc.
Individual evidence
- ↑ SHOX - short stature homeobox - Genetics Home Reference. US National Library of Medicine, September 1, 2005, accessed February 18, 2008 .
- ↑ C. Kanaka-Gantenbein, S. Kitsiou, A. Mavrou, L. Stamoyannou, A. Kolialexi, K. Kekou, M. Liakopoulou, G. Chrousos: 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 . In: Horm. Res. Band 61 , no. 5 , 2004, p. 205-210 , doi : 10.1159 / 000076532 , PMID 14752208 .
literature
- A. Ballabio, B. Bardoni, R. Carrozzo et al .: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. In: Proc. Natl. Acad. Sci. USA vol. 86, 24, 1990, pp. 10001-10005. PMID 2602357
- SK Leka, S. Kitsiou-Tzeli, A. Kalpini-Mavrou, E. Kanavakis: Short stature and dysmorphology associated with defects in the SHOX gene. In: Hormones. (Athens, Greece). vol. 5, 2, 2006, pp. 107-118. PMID 16807223
- S. Bernasconi, S. Mariani, C. Falcinelli et al: SHOX gene in Leri-Weill syndrome and in idiopathic short stature. In: J. Endocrinol. Invest. vol. 24, 9, 2002, pp. 737-741. PMID 11716161
- E. Rao, B. Weiss, M. Fukami et al: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. In: Nat. Genet. vol. 16, 1, 1997, pp. 54-63. PMID 9140395
- DJ Shears, HJ Vassal, FR Goodman et al .: Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. In: Nat. Genet. vol. 19, 1, 1998, pp. 70-73. PMID 9590293
- E. Rao, RJ Blaschke, A. Marchini et al: The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. In: Hum. Mol. Genet. vol. 10, 26, 2002, pp. 3083-3091. PMID 11751690