Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1463· OSTI ID:186058

Corti, O; Finocchiaro, G; DiDonato, S ^[1]

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1. Istituto Nazionale Neurologico C. Besta, Milan (Italy); and others

Using a combination of PCR screening of cDNA libraries and reverse transcription PCR, we have cloned three overlapping DNA fragments that encode human carnitine acetyltransferase (CAT), a key enzyme for metabolic pathways involved with the control of the acyl-Co/CoA ratio in mitochondria, peroxisomes, and endoplasmic reticulum. The resulting cDNA (2436 bp) hybridizes to a mRNA species of {approximately}2.9 kb that is particularly abundant in skeletal muscle and encodes a 68-kDa protein containing a peroxisomal targeting signal. The sequence matches those of several tryptic peptides obtained from purified human liver CAT and shows striking similarities with other members of the carnitine/choline acetyltransferase family very distant throughout evolution. CAT cDNA has also been used for fluorescence in situ hybridization on metaphase spreads of human chromosomes, and the corresponding gene, CAT1, has been mapped to chromosome 9q34.1. 29 refs., 4 figs.

• OSTI ID: 186058
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 23; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
BIOLOGICAL EVOLUTION
CARNITINE
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
ELECTROPHORESIS
ENZYMES
ETIOLOGY
FLUORESCENCE
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 9
MESSENGER-RNA
METABOLIC DISEASES
NUCLEOTIDES
PEPTIDES
POLYMERASE CHAIN REACTION