Genomic organization and amplification of the human keratin 15 and keratin19 genes

Keratin intermediate filaments are the major components of the cytoskeleton in epithelial cells. Mutations in keratin genes have been documented in ma ny disorders of the skin, nails, hair, and mucous membranes. Although no mu tations have been described in either keratin 15 or keratin 19, they are go od candidates for other as yet uncharacterized genetic disorders of keratin ization, particularly as the skin, nails, hair, and conjunctiva are sites o f keratin 15 and 19 expression. To facilitate future mutation detection ana lyses, we have therefore characterized the intron-exon organization of the human keratin 15 and keratin 19 genes. The keratin 15 gene comprises 8 exon s spanning approximately 5.1 kb on 17q21, and the keratin 19 gene consists of 6 exons covering approximately 4.7 kb on 17q21. We have also developed a PCR-based mutation detection strategy using primers placed on flanking int rons followed by direct sequencing of the PCR products. (C) 2000 Academic P ress.