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学科主题: 实验动物
题名:
Scd1(ab-Yyk): a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
作者: Lu, Y; Bu, L; Zhou, S; Jin, M; Sundberg, JP; Jiang, H; Qian, M; Shi, Y; Zhao, G; Kong, X; Hu, L
关键词: mutation ; sebaceous gland hypoplasia ; hair follicle ; hair loss ; skin
刊名: MOLECULAR GENETICS AND GENOMICS
发表日期: 2004-09-01
DOI: 10.1007/s00438-004-1043-3
卷: 272, 期:2, 页:129-137
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
研究领域[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
关键词[WOS]: SEBACEOUS GLANDS ; LABORATORY MOUSE ; EXPRESSION ; MICE ; TRANSPORTER ; DISRUPTION ; LEPTIN ; SKIN ; SCD1
英文摘要:

We describe here a spontaneous, autosomal recessive mutant mouse suffering from skin and hair defects, which arose in the outbred Kunming strain. By haplotype analysis and direct sequencing of PCR products. we show that this mutation is a new allele of the asebia locus with a naturally Occurring mutation in the Scd1 gene (a CCC insertion at nucleotide position 835 in exon 5), which codes for stearoyl-CoA desaturase 1. This mutation introduces an extra proline residue at position 279 in the Scd1 protein. The mutant mice, originally designated km/km but now assigned the name Scd1(ab-Xyk) (hereafter abbreviated as ab(Xyk)/ab(Xyk)), have a similar gross and histological phenotype to that reported for previously characterized allelic asebia mutations (Scd1(ab), Scd1(abJ), Scd1(ab2J), and Scd1(tm/Ntam)). Histological analysis showed they were also characterized by hypoplasic sebaceous glands and abnormal hair follicles. In a cross between Kunming-ab(Xyk)/ab(Xyk) and ABJ/Le-ab(J)/ab(J) mice, all the progeny showed the same phenotype, indicating that the two mutations were non-complementing and therefore allelic. Comparisons with the other four allelic mutants indicate that the Scd1(ab-Xyk) mutation causes the mildest change in Scd1 function. This new mouse mutant is a good model not only for the study of scarring alopecias in humans, which are characterized by hypoplasic sebaceous glands, but also for studying the structure and function of the Scd1 protein.

语种: 英语
WOS记录号: WOS:000224527700001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67732
Appears in Collections:实验动物科学部_期刊论文

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作者单位: 1.Chinese Acad Sci, Shanghai Inst Biol Sci, Shanghai Res Ctr Biotechnol, Shanghai 200233, Peoples R China
2.Chinese Acad Sci, Shanghai Inst Biol Sci, Hlth Sci Ctr, Shanghai 200025, Peoples R China
3.Shanghai Med Univ 2, Shanghai 200025, Peoples R China
4.Peking Univ, Hlth Sci Ctr, Dept Lab Anim Sci, Beijing 100083, Peoples R China
5.Jackson Lab, Bar Harbor, ME 04609 USA
6.State Key Lab Med Genom, Shanghai 200025, Peoples R China

Recommended Citation:
Lu, Y,Bu, L,Zhou, S,et al. Scd1(ab-Yyk): a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse[J]. MOLECULAR GENETICS AND GENOMICS,2004,272(2):129-137.
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