The actinin family of actin cross-linking proteins – a genetic perspective

Cell & Bioscience

Paul W. Young¹  Anita C.H. Murphy¹ 

[1] School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland

关键词: Actin binding proteins;    Actin cross-linking;    ACTN4;    ACTN3;    ACTN2;    ACTN1;    Alpha-actinin;    Actinin;   

Others  :  1226109
DOI  :  10.1186/s13578-015-0029-7

 received in 2015-03-20, accepted in 2015-06-23,  发布年份 2015

【 摘 要 】

Actinins are one of the major actin cross-linking proteins found in virtually all cell types and are the ancestral proteins of a larger family that includes spectrin, dystrophin and utrophin. Invertebrates have a single actinin-encoding ACTN gene, while mammals have four. Mutations in all four human genes have now been linked to heritable diseases or traits. ACTN1 mutations cause macrothrombocytopenia, a platelet disorder characterized by excessive bleeding. ACTN2 mutations have been linked to a range of cardiomyopathies, and ACTN4 mutations cause a kidney condition called focal segmental glomerulosclerosis. Intriguingly, approximately 16 % of people worldwide are homozygous for a nonsense mutation in ACTN3 that abolishes actinin-3 protein expression. This ACTN3 null allele has undergone recent positive selection in specific human populations, which may be linked to improved endurance and adaptation to colder climates. In this review we discuss the human genetics of the ACTN gene family, as well as ACTN gene knockout studies in several model organisms. Observations from both of these areas provide insights into the evolution and cellular functions of actinins.

【 授权许可】

   
2015 Murphy and Young.

【 图 表 】

Fig. 1.

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