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. The long-term goal of this study is to understand the molecular mechanisms of neoformation of dermal tissue in fibrotic diseases. To achieve this goal we study hereditary keloid formation. Keloids are benign tumors of the skin or cornea caused by overactivity of fibroblasts during abnormal wound repair. The relatively large number of familial cases of keloid formation makes it possible to propose a genetic approach for the identification of a gene responsible for increased cell proliferation and extracellular matrix expression. We perform genome wide screening and linkage analysis of suitably large families afflicted with the autosomal dominant form of hereditary keloid formation. Subsequently we identify and analyze the chromosomal loci. We have identified possible disease gene loci and are now in the process of establishing high resolution maps of the keloid loci. Additional families need to be identified and recruited to verify and further characterize the loci. These families will be tested for co-localization. Suitable families that do not co-localize to an existing locus will be used for genome wide screening.
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