Ontology highlight
ABSTRACT:
SUBMITTER: Wang Y
PROVIDER: S-EPMC4878994 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Wang Yuexia Y Lichter-Konecki Uta U Anyane-Yeboa Kwame K Shaw Jessica E JE Lu Jonathan T JT Östlund Cecilia C Shin Ji-Yeon JY Clark Lorraine N LN Gundersen Gregg G GG Nagy Peter L PL Worman Howard J HJ
Journal of cell science 20160331 10
In 1994 in the Journal of Cell Science, Hennekes and Nigg reported that changing valine to arginine at the endoproteolytic cleavage site in chicken prelamin A abolishes its conversion to lamin A. The consequences of this mutation in an organism have remained unknown. We now report that the corresponding mutation in a human subject leads to accumulation of prelamin A and causes a progeroid disorder. Next generation sequencing of the subject and her parents' exomes identified a de novo mutation in ...[more]