The strange case of the 'lumper' lamin A/C gene and human premature ageing

被引：36

作者：

Novelli, G ^{[1
]}

D'Apice, MR ^{[1
]}

机构：

[1] Univ Roma Tor Vergata, Dipartimento Biopatol & Diagnost Immagini, I-00133 Rome, Italy

来源：

TRENDS IN MOLECULAR MEDICINE | 2003年 / 9卷 / 09期

关键词：

D O I：

10.1016/S1471-4914(03)00162-X

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Gary Rosenberg said of conchologists that they 'are often characterized as lumpers or splitters. From one perspective, splitters recognize more species than really exist, and lumpers go around fixing the resulting damage.' The recent explosion in the number of identified mutations within the LMNA gene, which encodes two protein products lamins A and C, has allowed the identification of an allelic series of disorders, all caused by mutations within this one gene. Hence, LMNA might be thought of as a 'lumper' gene. These results have initiated analysis of the relationship between disease phenotype and gene, and have led to dramatic advances in our knowledge of the dynamic and complex organization of the nuclear architecture.

引用

页码：370 / 375

页数：6

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