The goal of this project is to elucidate protein and gene structures for novel components of the cutaneous basement membrane zone. Novel proteins of the skin basement membrane zone are constantly being discovered. The information on these new proteins and genes is fundamental to the study of mutations in EB. During the past four years, we have characterized a number of normal basement membrane genes. The gene probes developed in this project are instrumental in the molecular characterization of EB mutations. In this renewal application, we propose to use the same strategies to characterize additional basement membrane zone genes. Our initial efforts will be directed toward completing the current studies on the genes for the 230-kDa and 180-kDa bullous pemphigoid antigens (BPAG1 and BPAG2, respectively). At the same time, we will continue the work we have initiated towards characterizing a new basemetn membrane protein, BM90, and a related gene that we have discovered during the course of this study. We will then proceed to isolate cDNA and genomic clones for one or more novel components in skin such as type XIV collagen, kalinin/epiligrin, or other new proteins in the skin basement membrane zone.

Project Start
Project End
Budget Start
Budget End
Support Year
10
Fiscal Year
1996
Total Cost
Indirect Cost
Chung, Hye Jin; Uitto, Jouni (2010) Epidermolysis bullosa with pyloric atresia. Dermatol Clin 28:43-54
Chung, Hye Jin; Uitto, Jouni (2010) Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin 28:93-105
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Nakajima, Koji; Tamai, Katsuto; Yamazaki, Takehiko et al. (2008) Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes. J Invest Dermatol 128:1336-9
Varki, Roslyn; Sadowski, Sara; Uitto, Jouni et al. (2007) Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 44:181-92
Nyquist, Gurston G; Mumm, Christina; Grau, Renee et al. (2007) Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. Am J Med Genet A 143:734-41

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