A chromosomal DNA sequence harboring a processed AK2B pseudogene was isolat
ed from a human genomic library. It was a variant of the AK2B gene sequence
including several point mutations, deletions, and insertions. The nucleoti
de sequence of the ORF of the AK2B pseudogene predicted a truncated form of
the AK2B mutant suggesting that the processed pseudogene is nonfunctional.
A repetitive sequence, AAAAGAGAG, found in the 5' and 3' flanking regions
of the pseudogene and the poly(A) tract in the 3' end junction suggest that
a mRNA of AK2B may have been converted to the processed pseudogene by retr
otransposition events. Previously. it was suggested that an adenylate kinas
e (AK) 2 related gene on chromosome 2. confirmed by Southern analysis using
somatic cell hybrid cell lines. may be a processed pseudogene. It is propo
sed that the processed pseudogene isolated in this study may be the AK2 rel
ated nonfunctional gene localized on human chromosomes 2.