BLACK HAIR FOLLICULAR DYSPLASIA

黑发毛囊发育不良

• 批准号: 7391964
• 负责人: MARGRET L CASAL
• 金额: $ 0.07万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-08-01 至 2007-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7391964
• 关键词: BLACK; HAIR; FOLLICULAR; DYSPLASIA

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. An eight-week-old male intact Munsterlander dog presented with clinical signs and histopathologic findings consistent with black hair follicular dysplasia. The disease is characterized by hair coat abnormalities present only in the black areas of black and white spotted dogs. The black areas have sparse to no hair and occasionally pyodenna develops. The white areas are not affected at all. The mode of inheritance is has now been determined to be autosomal recessive. During the past two years we have been able to produce carrier dogs with affected offspring. The affected dogs are being followed closely throughout their neonatal and pediatric period with weekly biopsies to examine the disease process. The biopsies have been evaluated by Dr. Mauldin and results of this study have been accepted for presentation at the annual meeting of veterinary dermatologists. We have been able to demonstrate that melanin is unable to leave the melanocytes leading to clumping and accumulation in the hair bulbs and ultimately causing brittle and deformed hair shafts. A paper describing the findings has been completed and is ready for submission. We have a collaborative effort with Dr. Sheila Schmutz from the University of Saskatchewan who is performing linkage analysis to find the causative gene. We also have a collaboration with Dr. Torso Leeb from the University of Hannover in Germany, who has an interest in melanosome function and has cloned several of the genes involved in melanin trafficking and processing. While there is no known human counterpart to this disease, the study of black hair follicular dysplasia offers insight to the development of the neural crest cells, as these are the cells that are responsible for pigmentation.cells, as these are the cells that are responsible for pigmentation.

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心机构，不一定为研究者机构。一只8周龄雄性完整Munsterlander犬出现与黑色毛囊发育不良一致的临床体征和组织病理学结果。这种疾病的特征是被毛异常，只出现在黑色和白色斑点犬的黑色区域。黑色区域有稀疏或无毛发，偶尔会出现脓毒症。白色区域完全不受影响。遗传方式现已确定为常染色体隐性遗传。在过去的两年里，我们已经能够生产出带有受影响后代的携带者犬。受影响的狗正在密切关注整个新生儿和儿科期间，每周进行活检，以检查疾病的过程。Mauldin博士对活检进行了评价，本研究的结果已被接受，可在兽医皮肤科医生年会上发表。我们已经能够证明，黑色素是无法离开黑色素细胞，导致结块和积累在毛球，并最终导致脆弱和变形的毛干。一份介绍调查结果的文件已经完成，可以提交。我们与萨斯喀彻温大学的Sheila Schmutz博士合作，他们正在进行连锁分析以找到致病基因。我们还与德国汉诺威大学的Torso Leeb博士合作，他对黑素体功能感兴趣，并克隆了几个参与黑素运输和加工的基因。虽然没有已知的人类对应的这种疾病，黑毛囊发育不良的研究提供了洞察神经嵴细胞的发展，因为这些细胞是负责色素沉着的细胞。