HMGA
HMGA is a family of high mobility group proteins characterized by an AT-hook. They code for a "small, nonhistone, chromatin-associated protein that has no intrinsic transcriptional activity but can modulate transcription by altering the chromatin architecture".[1] Mammals have two orthologs: HMGA1 and HMGA2.
| high mobility group AT-hook 1 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | HMGA1 | ||||||
| Alt. symbols | HMGIY | ||||||
| NCBI gene | 3159 | ||||||
| HGNC | 5010 | ||||||
| OMIM | 600701 | ||||||
| RefSeq | NM_145901 | ||||||
| UniProt | P17096 | ||||||
| Other data | |||||||
| Locus | Chr. 6 p21 | ||||||
| |||||||
| high mobility group AT-hook 2 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | HMGA2 | ||||||
| Alt. symbols | HMGIC | ||||||
| NCBI gene | 8091 | ||||||
| HGNC | 5009 | ||||||
| OMIM | 600698 | ||||||
| RefSeq | NM_003484 | ||||||
| UniProt | P52926 | ||||||
| Other data | |||||||
| Locus | Chr. 12 q15 | ||||||
| |||||||
Genomic distribution
In mouse embryonic stem cells it has been demonstrated that both HMGA proteins binds uniformly to the DNA due to their AT-hook domains, with a slight preference for AT-rich regions/[2] Such regions tend to lack coding genes, an observation that argues against a direct role in transcriptional control and in agreement with previous studies, suggest that these proteins have a structural role in the chromatin, similar to histone.
Association with human traits
Variations in HMGA2 to have a moderate association with adult height.[3][4]
References
- Mayr C, Hemann MT, Bartel DP (March 2007). "Disrupting the pairing between let-7 and Hmga2 enhances oncogenic transformation". Science. 315 (5818): 1576–9. Bibcode:2007Sci...315.1576M. doi:10.1126/science.1137999. PMC 2556962. PMID 17322030.
- Colombo DF, Burger L, Baubec T, Schübeler D (December 2017). "Binding of high mobility group A proteins to the mammalian genome occurs as a function of AT-content". PLOS Genetics. 13 (12): e1007102. doi:10.1371/journal.pgen.1007102. PMC 5756049. PMID 29267285.
- "Scientists discover height gene". BBC News. 2007-09-03. Retrieved 2007-09-03.
- Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JR, et al. (October 2007). "A common variant of HMGA2 is associated with adult and childhood height in the general population". Nature Genetics. 39 (10): 1245–50. doi:10.1038/ng2121. PMC 3086278. PMID 17767157.
External links
- HMGA+Proteins at the US National Library of Medicine Medical Subject Headings (MeSH)