Nucleotide sequence surrounding the locus marker D21S246 on human chromosome 21

Most of the human Not I linking clones identified to date are considered to be derived from CpG islands because of the recognition sequence of this enzyme, and CpG islands have been reported to be located around the 5' regions of genes. As a pilot study, we determined the complete nucleotide sequence (41,924 bp) of a human cosmid clone (LL21NC02Q7A10) containing the marker D21S246 originating from a Not I linking clone. As a result of sequence analysis, we successfully mapped and revealed the genomic gene structure for KIAA0002 previously reported as a cDNA clone. This gene consists of 15 exons and was shown to exist at the D21S246 locus on human chromosome 21q21.3-q22.1. These results demonstrated that genomic marker-anchored DNA sequencing is a useful approach for the human genome project.