cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase

Journal Article · Tue Jan 15 04:00:00 EST 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.2.661· OSTI ID:5079327

Finocchiaro, G; Taroni, F; Martin, A L; Colombo, I; Tarelli, G T; DiDonato, S ^[1]; Rocchi, M ^[2]

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1. Istituto Nazionale Neurologico C. Besta, Milan (Italy)
2. Istituto G. Gaslini, Genoa (Italy)

The authors have cloned and sequenced a cDNA encoding human liver carnitine palmitoyltransferase an inner mitochondrial membrane enzyme that plays a major role in the fatty acid oxidation pathway. Mixed oligonucleotide primers whose sequences were deduced from one tryptic peptide obtained from purified CPTase were used in a polymerase chain reaction, allowing the amplification of a 0.12-kilobase fragment of human genomic DNA encoding such a peptide. A 60-base-pair (bp) oligonucleotide synthesized on the basis of the sequence from this fragment was used for the screening of a cDNA library from human liver and hybridized to a cDNA insert of 2255 bp. This cDNA contains an open reading frame of 1974 bp that encodes a protein of 658 amino acid residues including 25 residues of an NH{sub 2}-terminal leader peptide. The assignment of this open reading frame to human liver CPTase is confirmed by matches to seven different amino acid sequences of tryptic peptides derived from pure human CPTase and by the 82.2% homology with the amino acid sequence of rat CPTase. The NH{sub 2}-terminal region of CPTase contains a leucine-proline motif that is shared by carnitine acetyl- and octanoyltransferases and by choline acetyltransferase. The gene encoding CPTase was assigned to human chromosome 1, region 1q12-1pter, by hybridization of CPTase cDNA with a DNA panel of 19 human-hanster somatic cell hybrids.

• OSTI ID: 5079327
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:2; ISSN PNASA; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550201* -- Biochemistry-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
ALCOHOLS
AMINES
AMINO ACID SEQUENCE
AMINO ACIDS
AMMONIUM COMPOUNDS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BODY
CARBOXYLIC ACIDS
CARNITINE
CHOLINE
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DIGESTIVE SYSTEM
DNA
DNA SEQUENCING
DRUGS
ENZYMES
GENETIC MAPPING
GLANDS
HETEROCHROMOSOMES
HYDROXY ACIDS
HYDROXY COMPOUNDS
ISOTOPES
LEUCINE
LIGHT NUCLEI
LIPOTROPIC FACTORS
LIVER
MAPPING
MOLECULAR STRUCTURE
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
OLIGONUCLEOTIDES
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
QUATERNARY COMPOUNDS
RADIOISOTOPES
RECOMBINANT DNA
STRUCTURAL CHEMICAL ANALYSIS
TRANSFERASES
VITAMIN B GROUP
VITAMINS