LOCALIZATION OF CHL1-RELATED HELICASE GENES TO HUMAN-CHROMOSOME REGIONS 12P11 AND 12P13 - SIMILARITY BETWEEN PARTS OF THESE GENES AND CONSERVED HUMAN TELOMERIC-ASSOCIATED DNA
J. Amann et al., LOCALIZATION OF CHL1-RELATED HELICASE GENES TO HUMAN-CHROMOSOME REGIONS 12P11 AND 12P13 - SIMILARITY BETWEEN PARTS OF THESE GENES AND CONSERVED HUMAN TELOMERIC-ASSOCIATED DNA, Genomics, 32(2), 1996, pp. 260-265
The helicase enzymes are essential components of a number of multi-pro
tein complexes, including those that regulate transcription, splicing,
translation, and DNA repair. These enzymes assist in the unwinding of
double-stranded DNA and RNA as an essential part of their function. T
he yeast Chl1 gene encodes a putative helicase that appears to be esse
ntial for normal chromosome transmission. Human cDNAs related to this
yeast gene, hCHLR1 and hCHLR2, were recently isolated and shown to enc
ode products that localize to the nucleus. Two corresponding genes hav
e now been partially characterized and localized to human chromosome r
egions 12p11 and 12p13, indicating that this gene is contained within
a duplicated region localized to 12p. In addition, a comparison of the
hCHLR gene sequences with available databases indicates that a large
portion of these genes, including exons encoding two functional domain
s of the carboxyl-terminal region of these proteins, has been duplicat
ed as part of a larger human telomeric repeat sequence found on many h
uman chromosomes. Our results suggest that duplication of a relatively
large region of chromosome 12p containing this putative helicase gene
has resulted in the creation of numerous pseudogenes as part of a sub
telomeric repeat. The presence of these helicase pseudogenes, as well
as pseudogenes for other genes such as the interleukin-9 receptor, wit
hin many subtelomeric regions support the possibility that the spread
of this region is subject to exchange between different chromosomes an
d may have implications for elucidation of the mechanism of intra- and
interchromosomal duplication events. (C) 1996 Academic Press, Inc.