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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
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
2004-09-01
DOI10.1007/s00438-004-1043-3
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
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67732
专题实验动物科学部
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
推荐引用方式
GB/T 7714
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.
APA Lu, Y.,Bu, L.,Zhou, S.,Jin, M.,Sundberg, JP.,...&Hu, L.(2004).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.MOLECULAR GENETICS AND GENOMICS,272(2),129-137.
MLA Lu, Y,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".MOLECULAR GENETICS AND GENOMICS 272.2(2004):129-137.
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