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

Giuseppe Novelli, Maria Rosaria D'Apice

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)370-375
Number of pages6
JournalTrends in Molecular Medicine
Volume9
Issue number9
DOIs
Publication statusPublished - Sep 1 2003

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'The strange case of the 'lumper' lamin A/C gene and human premature ageing'. Together they form a unique fingerprint.

  • Cite this