A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu

Yoonyi Nam, Jeong Ki Kim, Dal Sun Cha, Jae Woo Cho, Kyu Hyuk Cho, Seok Joo Yoon, Jong Bok Yoon, Yang Seok Oh, Jun Gyo Suh, Sang Seop Han, Chang Woo Song, Sung Joo Kim Yoon

Research output: Contribution to journalArticle

14 Citations (Scopus)

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 Hrm1Enu. 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 Hrm1Enu mice may alter the function of HR as a transcriptional corepressor.

Original languageEnglish
Pages (from-to)520-526
Number of pages7
JournalGenomics
Volume87
Issue number4
DOIs
Publication statusPublished - 2006 Apr 1

Fingerprint

Hairless Mouse
Alopecia
Missense Mutation
Molecular Biology
Genes
Proteins
Real-Time Polymerase Chain Reaction
Ethylnitrosourea
Chromosomes, Human, Pair 14
Co-Repressor Proteins
Nails
Tryptophan
Mutagenesis
Glycine
Sequence Analysis
Nucleotides
Complementary DNA
Western Blotting
Alleles
Parturition

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Nam, Yoonyi ; Kim, Jeong Ki ; Cha, Dal Sun ; Cho, Jae Woo ; Cho, Kyu Hyuk ; Yoon, Seok Joo ; Yoon, Jong Bok ; Oh, Yang Seok ; Suh, Jun Gyo ; Han, Sang Seop ; Song, Chang Woo ; Yoon, Sung Joo Kim. / A novel missense mutation in the mouse hairless gene causes irreversible hair loss : Genetic and molecular analyses of Hrm1Enu. In: Genomics. 2006 ; Vol. 87, No. 4. pp. 520-526.
@article{07c684caa8264c6c98cb0e7ac3f0e2c1,
title = "A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu",
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 Hrm1Enu. 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 Hrm1Enu mice may alter the function of HR as a transcriptional corepressor.",
author = "Yoonyi Nam and Kim, {Jeong Ki} and Cha, {Dal Sun} and Cho, {Jae Woo} and Cho, {Kyu Hyuk} and Yoon, {Seok Joo} and Yoon, {Jong Bok} and Oh, {Yang Seok} and Suh, {Jun Gyo} and Han, {Sang Seop} and Song, {Chang Woo} and Yoon, {Sung Joo Kim}",
year = "2006",
month = "4",
day = "1",
doi = "10.1016/j.ygeno.2005.12.005",
language = "English",
volume = "87",
pages = "520--526",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "4",

}

Nam, Y, Kim, JK, Cha, DS, Cho, JW, Cho, KH, Yoon, SJ, Yoon, JB, Oh, YS, Suh, JG, Han, SS, Song, CW & Yoon, SJK 2006, 'A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu', Genomics, vol. 87, no. 4, pp. 520-526. https://doi.org/10.1016/j.ygeno.2005.12.005

A novel missense mutation in the mouse hairless gene causes irreversible hair loss : Genetic and molecular analyses of Hrm1Enu. / Nam, Yoonyi; Kim, Jeong Ki; Cha, Dal Sun; Cho, Jae Woo; Cho, Kyu Hyuk; Yoon, Seok Joo; Yoon, Jong Bok; Oh, Yang Seok; Suh, Jun Gyo; Han, Sang Seop; Song, Chang Woo; Yoon, Sung Joo Kim.

In: Genomics, Vol. 87, No. 4, 01.04.2006, p. 520-526.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A novel missense mutation in the mouse hairless gene causes irreversible hair loss

T2 - Genetic and molecular analyses of Hrm1Enu

AU - Nam, Yoonyi

AU - Kim, Jeong Ki

AU - Cha, Dal Sun

AU - Cho, Jae Woo

AU - Cho, Kyu Hyuk

AU - Yoon, Seok Joo

AU - Yoon, Jong Bok

AU - Oh, Yang Seok

AU - Suh, Jun Gyo

AU - Han, Sang Seop

AU - Song, Chang Woo

AU - Yoon, Sung Joo Kim

PY - 2006/4/1

Y1 - 2006/4/1

N2 - 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 Hrm1Enu. 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 Hrm1Enu mice may alter the function of HR as a transcriptional corepressor.

AB - 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 Hrm1Enu. 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 Hrm1Enu mice may alter the function of HR as a transcriptional corepressor.

UR - http://www.scopus.com/inward/record.url?scp=33645067697&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33645067697&partnerID=8YFLogxK

U2 - 10.1016/j.ygeno.2005.12.005

DO - 10.1016/j.ygeno.2005.12.005

M3 - Article

C2 - 16455232

AN - SCOPUS:33645067697

VL - 87

SP - 520

EP - 526

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 4

ER -