Biology:HMGA

From HandWiki
Short description: Family of high mobility group proteins
high mobility group AT-hook 1
Identifiers
SymbolHMGA1
Alt. symbolsHMGIY
NCBI gene3159
HGNC5010
OMIM600701
RefSeqNM_145901
UniProtP17096
Other data
LocusChr. 6 p21
high mobility group AT-hook 2
Identifiers
SymbolHMGA2
Alt. symbolsHMGIC
NCBI gene8091
HGNC5009
OMIM600698
RefSeqNM_003484
UniProtP52926
Other data
LocusChr. 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

External links