Mouse models of laminopathies

Aging Cell

Haoyue Zhang¹  Julia E. Kieckhaefer¹ 

[1] Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, USA

关键词: aging;    farnesylation;    lamin A;    laminopathies;    progeria;   

DOI  :  10.1111/acel.12021

来源: Wiley

【 摘 要 】

Abstract

The A- and B-type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease-causing mutations, termed ‘laminopathies,’ have been mapped throughout LMNA, the gene for A-type lamins in humans. Laminopathies can range from muscular dystrophies, cardiomyopathy, to Hutchinson–Gilford progeria syndrome. A number of mouse lines carrying some of the same mutations as those resulting in human diseases have been established. These LMNA-related mouse models have provided valuable insights into the functions of lamin A biogenesis and the roles of individual A-type lamins during tissue development. This review groups these LMNA-related mouse models into three categories: null mutants, point mutants, and progeroid mutants. We compare their phenotypes and discuss their potential implications in laminopathies and aging.

【 授权许可】

Unknown   
© 2012 The Authors Aging Cell © 2012 Blackwell Publishing Ltd/Anatomical Society of Great Britain and Ireland