TY - JOUR
T1 - Molecular Cloning of cDNAs Encoding Human Carnitine Acetyltransferase and Mapping of the Corresponding Gene to Chromosome 9q34.1
AU - Corti, Olga
AU - Finocchiaro, Gaetano
AU - Rossi, Elena
AU - Zuffardi, Orsetta
AU - Didonato, Stefano
PY - 1994/9/1
Y1 - 1994/9/1
N2 - 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-CoA/CoA ratio in mitochondria, peroxisomes, and endoplasmic reticulum. The resulting cDNA (2436 bp) hybridizes to a mRNA species of ∼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.
AB - 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-CoA/CoA ratio in mitochondria, peroxisomes, and endoplasmic reticulum. The resulting cDNA (2436 bp) hybridizes to a mRNA species of ∼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.
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U2 - 10.1006/geno.1994.1463
DO - 10.1006/geno.1994.1463
M3 - Article
C2 - 7829107
AN - SCOPUS:0027935446
VL - 23
SP - 94
EP - 99
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -