A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice

BJ Herron, RA Liddell, A Parker, S Grant, J Kinne… - Nature …, 2005 - nature.com
BJ Herron, RA Liddell, A Parker, S Grant, J Kinne, JK Fisher, LD Siracusa
Nature genetics, 2005nature.com
Abstract Stratifin (Sfn, also called 14-3-3σ) is highly expressed in differentiating epidermis
and mediates cell cycle arrest. Sfn is repressed in cancer, but its function during
development is uncharacterized. We identified an insertion mutation in the gene Sfn in
repeated epilation (Er) mutant mice by positional cloning. Er/+ mice expressed a truncated
Sfn protein, which probably contributes to the defects in Er/Er and Er/+ epidermis and to
cancer development in Er/+ mice.
Abstract
Stratifin (Sfn, also called 14-3-3σ) is highly expressed in differentiating epidermis and mediates cell cycle arrest. Sfn is repressed in cancer, but its function during development is uncharacterized. We identified an insertion mutation in the gene Sfn in repeated epilation (Er) mutant mice by positional cloning. Er/+ mice expressed a truncated Sfn protein, which probably contributes to the defects in Er/Er and Er/+ epidermis and to cancer development in Er/+ mice.
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