Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL)

Journal Article · Thu Aug 01 04:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0386· OSTI ID:465981

Long, K R; Trofatter, J A; McCormick, M K ^[1]

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1. Massachusetts General Hospital and Harvard Medical School, Charlestown, MA (United States); and others

An exon representing a novel clathrin heavy chain gene (CLTCL) was isolated during gene identification studies and transcription mapping of human chromosome 22. Isolation and sequencing of cDNA clones corresponding to this exon revealed extensive similarity of the predicted amino acid sequence of this gene product to those of clathrin heavy chain genes of other species. Northern blot analysis has revealed an apparent developmental expression pattern of an approximately 6-kb mRNA. The gene appears to be expressed ubiquitously in the limited number of fetal tissues that were tested, but is selectively expressed in certain adult tissues, particularly in skeletal muscle. In addition, alternative splicing of an exon was observed near the carboxyl terminus of the predicted gene product. Its location overlaps the domain putatively involved in clathrin light chain binding and is adjacent to the heavy chain self-assembly (or trimerization) region, suggesting that alternative splicing may be involved in regulating one or both of these interactions. The expression pattern of this gene, in addition to its potential role in receptor-mediated endocytosis and signal transduction, suggests that is may be important in some developmental processes. The location of CLTCL on human chromosome 22 near the region commonly deleted in DiGeorge and other apparent haploinsufficiency syndromes warrants further investigation into its relationship with these developmental disorders. 34 refs., 3 figs., 1 tab.

• OSTI ID: 465981
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 35; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
CHROMOSOMAL ABERRATIONS
COSMIDS
DNA SEQUENCING
DNA-CLONING
FETUSES
FLUORESCENCE
GENE AMPLIFICATION
GENE REGULATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
IN-SITU HYBRIDIZATION
MAN
ONTOGENESIS
POLYPEPTIDES
SPLICING
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION