Back to Search Start Over

A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hr m1 Enu

Authors :
Nam, YoonYi
Kim, Jeong Ki
Cha, Dal-Sun
Cho, Jae-Woo
Cho, Kyu-Hyuk
Yoon, SeokJoo
Yoon, Jong-Bok
Oh, Yang-Seok
Suh, Jun-Gyo
Han, Sang-Seop
Song, Chang-Woo
Yoon, SungJoo Kim
Source :
Genomics. Apr2006, Vol. 87 Issue 4, p520-526. 7p.
Publication Year :
2006

Abstract

Abstract: A novel autosomal recessive mutant was produced using N-ethyl-N-nitrosourea mutagenesis. The characteristics of the mutant mice included progressive irreversible hair loss within a month of birth, wrinkled skin, and long curved nails. Linkage analysis revealed that the causative gene is linked to D14Mit193 on chromosome 14. Sequence analysis of the complete cDNA of the candidate gene, hairless (Hr), identified a homozygous G-to-T transition at nucleotide 3572, leading to the substitution of glycine by tryptophan, designated Gly960Trp. This missense mutation occurs in the vicinity of repression domain 3 of the hairless protein (HR). This allele was named Hr m1Enu . The relative amounts of Hr mRNA and HR protein determined by real-time PCR and Western blot analyses, respectively, were slightly elevated in the mutant mice. Quantitative real-time PCR analysis revealed the increased expression of Kc1 and Vdr in the mutant mice, whereas the expression of Nrs1 and Krtap16-6 was decreased. These results suggest that the Gly960Trp substitution in HR protein in Hr m1Enu mice may alter the function of HR as a transcriptional corepressor. [Copyright &y& Elsevier]

Details

Language :
English
ISSN :
08887543
Volume :
87
Issue :
4
Database :
Academic Search Index
Journal :
Genomics
Publication Type :
Academic Journal
Accession number :
20252647
Full Text :
https://doi.org/10.1016/j.ygeno.2005.12.005