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.
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