A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice.
Stratifin (Sfn, also called 14-3-3sigma) 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.
Herron
Bruce J
BJ
Genomics Institute, Wadsworth Center, NYS Dept. of Health, 465 Jordan Road, Albany, New York 12180, USA. bherron@wadsworth.org
Liddell
Rebecca A
RA
Parker
April
A
Grant
Sarah
S
Kinne
Jennifer
J
Fisher
Jill K
JK
Siracusa
Linda D
LD
D048948:14-3-3 Proteins; D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D000818:Animals; D014408:Biomarkers, Tumor / Q000235:genetics*; D000078404:Epidermal Cells; D005092:Exonucleases / Q000235:genetics*; D005095:Exoribonucleases; D006204:Hair Removal; D006579:Heterozygote; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains / Q000033:anatomy & histology*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*
D048948:14-3-3 Proteins; D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D005092:Exonucleases; D005095:Exoribonucleases; C413442:SFN protein, human