D. Kedra et al., CHARACTERIZATION OF A 2ND HUMAN CLATHRIN HEAVY-CHAIN POLYPEPTIDE GENE(CLH-22) FROM CHROMOSOME 22Q11, Human molecular genetics, 5(5), 1996, pp. 625-631
We report cloning and characterization of the second human clathrin he
avy chain polypeptide gene (CLH-22) localized to chromosome 22q11, Hen
ce H. sapiens is the first species for which two clathrin heavy chain
genes have been reported, We provide 5470 bp cDNA sequence covering th
e entire open reading frame of the CLH-22 gene, The predicted polypept
ide is composed of 1640 amino acids. Its 6 kb transcript is expressed
in all of 16 tested human tissues, suggesting it is a housekeeping gen
e, Skeletal muscle, testis and heart show significantly higher express
ion levels, Compared to the previously characterized human ciathrin he
avy chain gene localized on chromosome 17 (CLH-17), CLH-22 shows diffe
rent transcript size and expression profile in human tissues, Northern
analysis of CLH-22 suggests that several alternatively spliced transc
ripts exist, A presumably single, 171 bp long alternatively spliced ex
on has been characterized, Amino acid sequence comparison between CLH-
22 and CLH-17 shows an overall identity and similarity of 84.7 and 91.
1%, respectively, At the nucleic acid level, identity between open rea
ding frames of both genes is 74.3%, Sequence comparison with previousl
y cloned genes in other species suggests that counterparts of the CLH-
17 gene have been cloned in B. taurus and R. norvegicus, whereas presu
mptive mammalian homologues of the CLH-22 gene are yet to be character
ized, Our Northern and Southern blot analyses of meningiomas clearly s
uggest the CLH-22 gene may be involved in the tumor development and ca
n be considered as a candidate for a tumor suppressor.