Sparse and wavy hair: A new model for hypoplasia of hair follicle and mammary glands on rat chromosome 17
Sparse and wavy hair: A new model for hypoplasia of hair follicle and mammary glands on rat chromosome 17
复制标题
DOI：
10.1093/jhered/esi053
复制
发表时间：
2005-07-01
影响因子：
3.1
通讯作者：
Ushijima, T
中科院分区：
文献类型：
--
作者：
Kuramoto, T;Morimura, K;Ushijima, T
在生物医学研究中，皮肤和毛发中的突变动物已被用于识别重要的基因。我们描述了一种新的突变大鼠，稀疏和波浪毛（SWH），自发地出现在一个殖民地的近交系WTC大鼠。突变体表型的特征是稀疏和波浪状的毛发，这在3-4周龄时最明显，并且以常染色体隐性方式遗传。swh/swh大鼠体重增加受损，毛囊数量和大小减少，与皮脂腺和皮下脂肪组织发育不全有关。雌性swh/swh大鼠不能生育后代。乳腺发育不良，乳腺上皮细胞和肌上皮细胞分化受损。对579只回交大鼠的连锁分析将swh位点定位于大鼠Chr 17远端D17 Rat 131和D17 Rat 50之间的.35 cM区域。swh基因座跨越3.7-Mb的基因组区域，其中24个基因已被定位，并对应于小鼠Chr 2的着丝粒区域或人Chr 10p11.1-p14的区域。小鼠或人类毛发和皮肤疾病中描述的基因或基因座都没有映射到这些区域。这些发现表明，大鼠swh是一个新的突变与皮肤附件，如毛囊，皮脂腺，乳腺发育受损，并将提供一个实验模型，以澄清基因和机制的皮肤附件的发展。
Mutant animals in the skin and hair have been used to identify important genes in biomedical research. We describe a new mutant rat, sparse and wavy hair (swh), that spontaneously arose in a colony of inbred WTC rats. The mutant phenotype was characterized by sparse and wavy hair, which was most prominent at age 3-4 weeks, and was inherited in an autosomal recessive manner. The swh/swh rats showed impaired gain of body weight, and their hair follicles were reduced both in number and size, associated with hypoplasia of the sebaceous glands and the subcutaneous fat tissue. Female swh/swh rats were unable to suckle their offspring. Their mammary glands were hypoplastic, and differentiation of mammary epithelial and myoepithelial cells was impaired. Linkage analysis of 579 backcross rats localized the swh locus to a .35-cM region between D17Rat131 and D17Rat50 in the distal end of rat Chr 17. The swh locus spanned the 3.7-Mb genomic region where 24 genes have been mapped and corresponded to the centromere region of the mouse Chr 2 or the region of the human Chr 10p11.1-p14. None of the genes or loci described in mouse or human hair and skin diseases mapped to these regions. These findings suggest that the rat swh is a novel mutation associated with impaired development of the skin appendages, such as hair follicles, sebaceous glands, and mammary glands, and will provide an experimental model to clarify a gene and mechanisms for development of skin appendages.