Human pseudogenes

Gene dlntron IJ Human pseudogene ED Genomic-wide repeat E tRNA gene... 

The CYP2 family is the largest CYP family in humans and it comprises about 16 functional genes and 11 pseudogenes. 

B35. Brown, J. R., Daar, I. O., Krug, J. R., and Maquart, L. E., Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family. Mol. Cell. Biol. 5,1694-1707 (1985). 

P450 mRNA/GAPDH mRNA in whole human brain by RT-RT-PCR (Nishimura et al., 2003). CYP2A7 "pseudogene" cDNA generated a protein of molecular mass 49 kDa of unknown function in COS-7 cells (Ding et al., 1995). 

Kimura S, Umeno M, Skoda RC, Meyer UA, Gonzalez FJ. 1989. The human debrisoquine 4-hydroxylase (CYP2D) locus sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am J Hum Genet 45 889-904. 

Pai HV, Kommaddi RP, Chinta SJ, Mori T, Boyd MR, et al. 2004. A frame-shift mutation and alternate splicing in human brain generates a functional form of the pseudogene, cytochrome P4502D7 that demethylates codeine to morphine. J Biol Chem 279 27383-27389. 

Rozman D, Stromstedt M, Waterman MR. 1996. 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. Arch Biochem Biophys 333 466-474. 

Z. Zhang, and M. Gerstein, Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes. Nucleic Acids Res. 31, 5338-5348 (2003). 

Actnally the human genome contains abont 600 odorant receptor genes. However, abont 250 of these are pseudogenes that have no function. They are remnants of evolution. 

In the case of human, 1,265 GPCR genes (879 normal genes and 386 pseudogenes) are compiled in Level A datasets see Note 3). Of the 879 normal GPCR genes, there are 83 orphan receptors and 27 unknown receptors. 

Lee D, Szumlanski C, Houtman J et al. Thiopurine methyltransferase pharmacogenetics cloning of human liver cDNA and a processed pseudogene on human chromosome 9>c(2l.l.DrugMetabDispos 1995 23 398 05. 

Mombaerts, P. (2001) The human repertoire of odorant receptor genes and pseudogenes. Annu. Rev. Genomics Hum. Genet. 2, 493-510. 

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