Biomaterial Database

Identification of 14-3-3sigma mutation causing cutaneous abnormality in repeated-epilation mutant mouse. 2005

Qiutang Li, and Qingxian Lu, and Gabriela Estepa, and Inder M Verma

The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.

Repeated-epilation (Er) mutation in the mouse is inherited as an autosomal and semidominant mutation. Major defects in heterozygous adults and homozygous fetuses were associated with skin and were caused by abnormal ectodermal differentiation. Heterozygous mice are characterized by repeated hair loss and regrowth, and homozygous fetuses die at birth with severe abnormality in skin, limb, tail, and face. To identify the gene causing Er mutation, we have performed gene-expression profiles of skins and mouse embryonic fibroblasts from WT and mutant Er mice by using Affymetrix (Santa Clara, CA) chip analysis. By analyzing the candidate genes generated from gene-expression profiling, we identified a Sfn mutation in Er mice. A single nucleotide insertion in the Sfn (Stratifin, also called 14-3-3sigma) coding region results in a truncated protein lacking 40 amino acid residues at the C terminus. The mutation is linked with phenotypes of Er-heterozygous and -homozygous mice. Ectopic overexpression of WT 14-3-3sigma in Er/Er keratinocytes rescues defects in keratinocyte differentiation. Our study demonstrates that 14-3-3sigma is a crucial regulator for skin proliferation and differentiation.

UI	MeSH Term	Description	Entries
D008817	Mice, Mutant Strains	Mice bearing mutant genes which are phenotypically expressed in the animals.	Mouse, Mutant Strain,Mutant Mouse Strain,Mutant Strain of Mouse,Mutant Strains of Mice,Mice Mutant Strain,Mice Mutant Strains,Mouse Mutant Strain,Mouse Mutant Strains,Mouse Strain, Mutant,Mouse Strains, Mutant,Mutant Mouse Strains,Mutant Strain Mouse,Mutant Strains Mice,Strain Mouse, Mutant,Strain, Mutant Mouse,Strains Mice, Mutant,Strains, Mutant Mouse
D002454	Cell Differentiation	Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.	Differentiation, Cell,Cell Differentiations,Differentiations, Cell
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D000505	Alopecia	Absence of hair from areas where it is normally present.	Alopecia, Androgenetic,Baldness,Male Pattern Baldness,Pseudopelade,Alopecia Cicatrisata,Alopecia, Male Pattern,Androgenetic Alopecia,Androgenic Alopecia,Baldness, Male Pattern,Female Pattern Baldness,Hair Loss,Pattern Baldness,Alopecia Cicatrisatas,Alopecia, Androgenic,Alopecias, Androgenic,Androgenic Alopecias,Baldness, Female Pattern,Baldness, Pattern,Hair Losses,Loss, Hair,Losses, Hair,Male Pattern Alopecia
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D012868	Skin Abnormalities	Congenital structural abnormalities of the skin.	Abnormalities, Skin,Abnormality, Skin,Skin Abnormality
D016368	Frameshift Mutation	A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.	Mutation, Frameshift,Frame Shift Mutation,Out-of-Frame Deletion,Out-of-Frame Insertion,Out-of-Frame Mutation,Deletion, Out-of-Frame,Deletions, Out-of-Frame,Frame Shift Mutations,Frameshift Mutations,Insertion, Out-of-Frame,Insertions, Out-of-Frame,Mutation, Frame Shift,Mutation, Out-of-Frame,Mutations, Frame Shift,Mutations, Frameshift,Mutations, Out-of-Frame,Out of Frame Deletion,Out of Frame Insertion,Out of Frame Mutation,Out-of-Frame Deletions,Out-of-Frame Insertions,Out-of-Frame Mutations
D048948	14-3-3 Proteins	A large family of signal-transducing adaptor proteins present in wide variety of eukaryotes. They are PHOSPHOSERINE and PHOSPHOTHREONINE binding proteins involved in important cellular processes including SIGNAL TRANSDUCTION; CELL CYCLE control; APOPTOSIS; and cellular stress responses. 14-3-3 proteins function by interacting with other signal-transducing proteins and effecting changes in their enzymatic activity and subcellular localization. The name 14-3-3 derives from numerical designations used in the original fractionation patterns of the proteins.	14-3-3 Protein,14-3-3 Protein, beta Isoform,14-3-3 Protein, epsilon Isoform,14-3-3 Protein, eta Isoform,14-3-3 Protein, gamma Isoform,14-3-3 Protein, tau Isoform,14-3-3 Protein, zeta Isoform,14-3-3 beta Protein,14-3-3 epsilon Protein,14-3-3 eta Protein,14-3-3 gamma Protein,14-3-3 tau Protein,14-3-3 zeta Protein,14-3-3beta Protein,14-3-3epsilon Protein,14-3-3eta Protein,14-3-3gamma Protein,14-3-3tau Protein,14-3-3zeta Protein,Brain 14-3-3 Protein,Protein 14-3-3,14 3 3 Protein,14 3 3 Protein, beta Isoform,14 3 3 Protein, epsilon Isoform,14 3 3 Protein, eta Isoform,14 3 3 Protein, gamma Isoform,14 3 3 Protein, tau Isoform,14 3 3 Protein, zeta Isoform,14 3 3 Proteins,14 3 3 beta Protein,14 3 3 epsilon Protein,14 3 3 eta Protein,14 3 3 gamma Protein,14 3 3 tau Protein,14 3 3 zeta Protein,14 3 3beta Protein,14 3 3epsilon Protein,14 3 3eta Protein,14 3 3gamma Protein,14 3 3tau Protein,14 3 3zeta Protein,14-3-3 Protein, Brain,Brain 14 3 3 Protein,Protein, 14-3-3tau,eta Protein, 14-3-3