Human Molecular Genetics, Vol 5, 625-631, Copyright © 1996 by Oxford University Press
D Kedra, M Peyrard, I Fransson, JE Collins, I Dunham, BA Roe and JP Dumanski
We report cloning and characterization of the second human clathrin heavy
chain polypeptide gene (CLH-22) localized to chromosome 22q11. Hence H.
sapiens is the first species for which two clathrin heavy chain genes have
been reported. We provide 5470 bp cDNA sequence covering the entire open
reading frame of the CLH-22 gene. The predicted polypeptide is composed of
1640 amino acids. Its 6 kb transcript is expressed in all of 16 tested
human tissues, suggesting it is a housekeeping gene. Skeletal muscle,
testis and heart show significantly higher expression levels. Compared to
the previously characterized human clathrin heavy chain gene localized on
chromosome 17 (CLH-17), CLH-22 shows different transcript size and
expression profile in human tissues. Northern analysis of CLH-22 suggests
that several alternatively spliced transcripts exist. A presumably single,
171 bp long alternatively spliced exon has been characterized. Amino acid
sequence comparison between CLH-22 and CLH-17 shows an overall identify and
similarity of 84.7 and 91.1%, respectively. At the nucleic acid level,
identity between open reading frames of both genes is 74.3%. Sequence
comparison with previously cloned genes in other species suggests that
counterparts of the CLH-17 gene have been cloned in B. taurus and R.
norvegicus, whereas presumptive mammalian homologues of the CLH-22 gene are
yet to be characterized. Our Northern and Southern blot analyses of
meningiomas clearly suggest the CLH-22 gene may be involved in the tumor
development and can be considered as a candidate for a tumor suppressor.
ARTICLES
Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
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