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Mol Cell Biol. Jun 1990; 10(6): 2513–2520.
PMCID: PMC360608

Retroviral and pseudogene insertion sites reveal the lineage of human salivary and pancreatic amylase genes from a single gene during primate evolution.


We have analyzed the junction regions of inserted elements within the human amylase gene complex. This complex contains five genes which are expressed at high levels either in the pancreas or in the parotid gland. The proximal 5'-flanking regions of these genes contain two inserted elements. A gamma-actin pseudogene is located at a position 200 base pairs upstream of the first coding exon. All of the amylase genes contain this insert. The subsequent insertion of an endogenous retrovirus interrupted the gamma-actin pseudogene within its 3'-untranslated region. Nucleotide sequence analysis of the inserted elements associated with each of the five human amylase genes has revealed a series of molecular events during the recent history of this gene family. The data indicate that the entire gene family was generated during primate evolution from one ancestral gene copy and that the retroviral insertion activated a cryptic promoter.

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Selected References

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  • Boulet AM, Erwin CR, Rutter WJ. Cell-specific enhancers in the rat exocrine pancreas. Proc Natl Acad Sci U S A. 1986 Jun;83(11):3599–3603. [PMC free article] [PubMed]
  • Chen EY, Liao YC, Smith DH, Barrera-Saldaña HA, Gelinas RE, Seeburg PH. The human growth hormone locus: nucleotide sequence, biology, and evolution. Genomics. 1989 May;4(4):479–497. [PubMed]
  • Cockell M, Stevenson BJ, Strubin M, Hagenbüchle O, Wellauer PK. Identification of a cell-specific DNA-binding activity that interacts with a transcriptional activator of genes expressed in the acinar pancreas. Mol Cell Biol. 1989 Jun;9(6):2464–2476. [PMC free article] [PubMed]
  • Emi M, Horii A, Tomita N, Nishide T, Ogawa M, Mori T, Matsubara K. Overlapping two genes in human DNA: a salivary amylase gene overlaps with a gamma-actin pseudogene that carries an integrated human endogenous retroviral DNA. Gene. 1988;62(2):229–235. [PubMed]
  • Erba HP, Eddy R, Shows T, Kedes L, Gunning P. Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. Mol Cell Biol. 1988 Apr;8(4):1775–1789. [PMC free article] [PubMed]
  • Erba HP, Gunning P, Kedes L. Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes. Nucleic Acids Res. 1986 Jul 11;14(13):5275–5294. [PMC free article] [PubMed]
  • Groot PC, Bleeker MJ, Pronk JC, Arwert F, Mager WH, Planta RJ, Eriksson AW, Frants RR. The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes. Genomics. 1989 Jul;5(1):29–42. [PubMed]
  • Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC, Meisler MH. Concerted evolution of human amylase genes. Mol Cell Biol. 1988 Mar;8(3):1197–1205. [PMC free article] [PubMed]
  • Hamada H, Petrino MG, Kakunaga T. A novel repeated element with Z-DNA-forming potential is widely found in evolutionarily diverse eukaryotic genomes. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6465–6469. [PMC free article] [PubMed]
  • Handy DE, Larsen SH, Karn RC, Hodes ME. Identification of a human salivary amylase gene. Partial sequence of genomic DNA suggests a mode of regulation different from that of mouse, Amy1. Mol Biol Med. 1987 Jun;4(3):145–155. [PubMed]
  • Horii A, Emi M, Tomita N, Nishide T, Ogawa M, Mori T, Matsubara K. Primary structure of human pancreatic alpha-amylase gene: its comparison with human salivary alpha-amylase gene. Gene. 1987;60(1):57–64. [PubMed]
  • Howard G, Keller PR, Johnson TM, Meisler MH. Binding of a pancreatic nuclear protein is correlated with amylase enhancer activity. Nucleic Acids Res. 1989 Oct 25;17(20):8185–8195. [PMC free article] [PubMed]
  • Li WH, Tanimura M, Sharp PM. An evaluation of the molecular clock hypothesis using mammalian DNA sequences. J Mol Evol. 1987;25(4):330–342. [PubMed]
  • Litt M, Luty JA. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet. 1989 Mar;44(3):397–401. [PMC free article] [PubMed]
  • Man YM, Delius H, Leader DP. Molecular analysis of elements inserted into mouse gamma-actin processed pseudogenes. Nucleic Acids Res. 1987 Apr 24;15(8):3291–3304. [PMC free article] [PubMed]
  • Martin MA, Bryan T, Rasheed S, Khan AS. Identification and cloning of endogenous retroviral sequences present in human DNA. Proc Natl Acad Sci U S A. 1981 Aug;78(8):4892–4896. [PMC free article] [PubMed]
  • Melton DA, Krieg PA, Rebagliati MR, Maniatis T, Zinn K, Green MR. Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter. Nucleic Acids Res. 1984 Sep 25;12(18):7035–7056. [PMC free article] [PubMed]
  • Nishide T, Nakamura Y, Emi M, Yamamoto T, Ogawa M, Mori T, Matsubara K. Primary structure of human salivary alpha-amylase gene. Gene. 1986;41(2-3):299–304. [PubMed]
  • Osborn L, Rosenberg MP, Keller SA, Meisler MH. Tissue-specific and insulin-dependent expression of a pancreatic amylase gene in transgenic mice. Mol Cell Biol. 1987 Jan;7(1):326–334. [PMC free article] [PubMed]
  • Panganiban AT. Retroviral DNA integration. Cell. 1985 Aug;42(1):5–6. [PubMed]
  • Peter B, Man YM, Begg CE, Gall I, Leader DP. Mouse cytoskeletal gamma-actin: analysis and implications of the structure of cloned cDNA and processed pseudogenes. J Mol Biol. 1988 Oct 5;203(3):665–675. [PubMed]
  • Pilbeam D. The descent of hominoids and hominids. Sci Am. 1984 Mar;250(3):84–96. [PubMed]
  • Ponte P, Gunning P, Blau H, Kedes L. Human actin genes are single copy for alpha-skeletal and alpha-cardiac actin but multicopy for beta- and gamma-cytoskeletal genes: 3' untranslated regions are isotype specific but are conserved in evolution. Mol Cell Biol. 1983 Oct;3(10):1783–1791. [PMC free article] [PubMed]
  • Repaske R, Steele PE, O'Neill RR, Rabson AB, Martin MA. Nucleotide sequence of a full-length human endogenous retroviral segment. J Virol. 1985 Jun;54(3):764–772. [PMC free article] [PubMed]
  • Samuelson LC, Wiebauer K, Gumucio DL, Meisler MH. Expression of the human amylase genes: recent origin of a salivary amylase promoter from an actin pseudogene. Nucleic Acids Res. 1988 Sep 12;16(17):8261–8276. [PMC free article] [PubMed]
  • Sarich VM, Wilson AC. Immunological time scale for hominid evolution. Science. 1967 Dec 1;158(3805):1200–1203. [PubMed]
  • Scheidereit C, Beato M. Contacts between hormone receptor and DNA double helix within a glucocorticoid regulatory element of mouse mammary tumor virus. Proc Natl Acad Sci U S A. 1984 May;81(10):3029–3033. [PMC free article] [PubMed]
  • Sekiya T, Kuchino Y, Nishimura S. Mammalian tRNA genes: nucleotide sequence of rat genes for tRNAAsp, tRNAGly and tRNAGlu. Nucleic Acids Res. 1981 May 25;9(10):2239–2250. [PMC free article] [PubMed]
  • Sibley CG, Ahlquist JE. The phylogeny of the hominoid primates, as indicated by DNA-DNA hybridization. J Mol Evol. 1984;20(1):2–15. [PubMed]
  • Smith GE, Summers MD. The bidirectional transfer of DNA and RNA to nitrocellulose or diazobenzyloxymethyl-paper. Anal Biochem. 1980 Nov 15;109(1):123–129. [PubMed]
  • Steele PE, Rabson AB, Bryan T, Martin MA. Distinctive termini characterize two families of human endogenous retroviral sequences. Science. 1984 Aug 31;225(4665):943–947. [PubMed]
  • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed]
  • Wu CI, Li WH, Shen JJ, Scarpulla RC, Limbach KJ, Wu R. Evolution of cytochrome c genes and pseudogenes. J Mol Evol. 1986;23(1):61–75. [PubMed]

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