GENOMIC ORGANIZATION AND COMPLETE NUCLEOTIDE-SEQUENCE OF THE HUMAN PWP2 GENE ON CHROMOSOME-21

The human PWP2 gene is the human homologue of the yeast periodic trypt ophan protein 2 (PWP2) gene and is a member of the gene family that co ntains tryptophan-aspartate (WD) repeats. Genomic sequencing revealed that the human PWP2 gene consists of 21 exons spanning approximately 2 4 kb and locates just between the two genes EHOC-1 and KNP-I and dista l to a NotI site of LJ104 (D21S1460) on chromosome 21q22.3, Analysis o f the 5'-flanking DNA sequence revealed that the upstream region of th e PWP2 gene is associated with a CpG island containing the NotI site o f LJ104. Since PWP2 is considered to be a candidate for genetic disord ers mapped in the 21q22.3 region, the information including nucleotide sequence and genomic organization of the PWP2 gene should be invaluab le for the mutation analysis of the corresponding genetic disorders. ( C) 1997 Academic Press.