Biology:HMGA
| 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 |
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.
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.
Function
Normally, when cells are subjected to increased DNA damage (such as the formation of 6-O-methylguanine) this causes an increase in apoptosis (programmed cell death). However, cells with diminished activity for either proteins HMGA1 or HMGA2 (or both together) are more tolerant of such DNA damage than cells in which these proteins are not diminished.[3] Thus a normal function of the HMGA1 and HMGA2 proteins appears to be to signal the presence of DNA damage leading to induction of apoptosis.[3]
Association with human traits
Variations in HMGA2 to have a moderate association with adult height.[4][5]
See also
References
- ↑ "Disrupting the pairing between let-7 and Hmga2 enhances oncogenic transformation". Science 315 (5818): 1576–1579. March 2007. doi:10.1126/science.1137999. PMID 17322030. Bibcode: 2007Sci...315.1576M.
- ↑ "Binding of high mobility group A proteins to the mammalian genome occurs as a function of AT-content". PLOS Genetics 13 (12): e1007102. December 2017. doi:10.1371/journal.pgen.1007102. PMID 29267285.
- ↑ 3.0 3.1 "Function of high-mobility group A proteins in the DNA damage signaling for the induction of apoptosis". Scientific Reports 6: 31714. August 2016. doi:10.1038/srep31714. PMID 27538817. Bibcode: 2016NatSR...631714F.
- ↑ "Scientists discover height gene". BBC News. 2007-09-03. http://news.bbc.co.uk/1/hi/health/6975865.stm.
- ↑ "A common variant of HMGA2 is associated with adult and childhood height in the general population". Nature Genetics 39 (10): 1245–1250. October 2007. doi:10.1038/ng2121. PMID 17767157.
External links
- HMGA+Proteins at the US National Library of Medicine Medical Subject Headings (MeSH)
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