Avtor/Urednik		Rozman, D; Stromstedt, M; Waterman, MR
Naslov		The three human cytochrome P450 lanosterol 14 alpha-demethylase (CYP51) genes reside on chromosomes 3, 7, and 13: structure of the two retrotransposed pseudogenes, association with a line-1 element, and evolution of the human CYP51 family
Tip		članek
Vir		Arch Biochem Biophys
Vol. in št.		Letnik 333, št. 2
Leto izdaje		1996
Obseg		str. 466-74
Jezik		eng
Abstrakt		The three human lanosterol 14 alpha-demethylase (CYP51) genes have been mapped to human chromosomes 3, 7, and 13 using a polychromosomal somatic cell hybrid panel. Two of the genes have been cloned from human chromosome 3-specific (CYP51P1) or from human chromosome 13-containing (CYP51P2) cell hybrids. Both were found to be processed pseudogenes, the first reported in the cytochrome P450 (CYP) gene superfamily. The functional CYP51 gene resides on human chromosome 7. CYP51P1 is 96.5 percent identical to the human CYP51 coding sequence and is not interrupted with introns but has six in-frame stop codons resulting from point mutations. The intronless CYP51P2 gene is 97.2 percent identical to the CYP51 cDNA coding region. It has a 1-bp insertion leading to a change of reading frame after codon 9 and a stop codon after amino acid 81. In addition, the CYP51P2 sequence is interrupted with a 5' truncated 131-bp LINE-1 element after nucleotide 606. The element belongs to the youngest LINE subfamily Sb and is 98.2 percent identical to the LINE-1 element expressed in human teratocarcinoma cells. CYP51 processed pseudogenes are the only known examples of the reverse flow of genetic information during evolution of the large (more than 480 genes) CYP superfamily, suggesting expression in the germ line and a housekeeping function of the lanosterol 14 alpha-demethylase gene. CYP51 pseudogenes evolved by two independent reverse transcription events of the human CYP51 mRNA approximately 9.5 MYR (CYP51P2) and approximately 11.7 MYR (CYP51P1) ago and were inactivated soon after the insertion. The truncated L1 element was inserted into CYP51P2 approximately 6 MYR ago.
Deskriptorji		CHROMOSOMES, HUMAN, PAIR 13 CHROMOSOMES, HUMAN, PAIR 3 CHROMOSOMES, HUMAN, PAIR 7 CYTOCHROME P-450 EVOLUTION, MOLECULAR OXIDOREDUCTASES PSEUDOGENES RETROTRANSPOSONS AMINO ACID SEQUENCE BASE SEQUENCE CHROMOSOME MAPPING CYTOCHROME P-450 DNA PRIMERS HYBRID CELLS LIVER MICE MICE, INBRED STRAINS MOLECULAR SEQUENCE DATA OXIDOREDUCTASES POLYMERASE CHAIN REACTION RECOMBINANT PROTEINS RESTRICTION MAPPING SEQUENCE HOMOLOGY, AMINO ACID SEQUENCE HOMOLOGY, NUCLEIC ACID TRANSLATION, GENETIC