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Primate evolution of a human chromosome 1 hypervariable repetitive element

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Summary

The clone designated hMF #1 represents a clustered DNA family, located on chromosome 1, consisting of tandem arrays displaying a monomeric length of 40 bp and a repetition frequency of approximately 7×103 copies per haploid genome. The sequence hMF #1 reveals multiple restriction fragment length polymorphisms (RFLPs) when human genomic DNA is digested with a variety of 4–6-bp recognition sequence restriction enzymes (i.e., Taq I, Eco RI, Pst I, etc.). When hamster and mouse genomic DNA was digested and analyzed, no cross-species homology could be observed. Further investigation revealed considerable hybridization in the higher primates (chimpanzee, gorilla, and orangutan) as well as some monkey species.

The evolutionary relationship of this repetitive DNA sequence, found in humans, to that of other primates was explored using two hybridization methods: DNA dot blot to establish copy number and Southern DNA analysis to examine the complexity of the RFLPs. Homology to the hMF #1 sequence was found throughout the suborder Anthropoidea in 14 ape and New and Old World monkey species. However the sequence was absent in one species of the suborder Prosimii. Several discrepancies between “established” evolutionary relationships and those predicted by hMF #1 exist, which suggests that repetitive elements of this type are not reliable indicators of phylogenetic branching patterns. The phenomenon of marked diversity between sequence homologies and copy numbers of dispersed repetitive DNA of closely related species has been observed inDrosophila mice,Galago, and higher primates. We report here a similar phenomenon for a clustered repeat that may have originated at an early stage of primate evolution.

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References

  • Adeniyi-Jones S, Zasloff M (1985) Transcription, processing and nuclear transport of a B1 Alu RNA species complementary to an intron of the murine α-fetoprotein gene. Nature 317:81–84

    Article  PubMed  Google Scholar 

  • Bell GI, Selby MJ, Rutter WJ (1982) The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature 295:31–35

    Article  PubMed  Google Scholar 

  • Bonner TI, Brenner DJ, Neufeld BR, Britten RJ (1973) Reduction in the rate of DNA reassociation by sequence divergence. J Mol Biol 88:123–135

    Article  Google Scholar 

  • Britten RJ, Davidson EH (1969) Gene regulation for higher cells: a theory. Science 165:349–357

    PubMed  Google Scholar 

  • Buroker N, Bestwick R, Haight G, Magenis RE, Litt M (1987) A hypervariable repeated sequence on human chromosome 1p36. Hum Genet 77:175–181

    Article  PubMed  Google Scholar 

  • Burton FH, Loeb DD, Voliva, CF, Martin SL, Edgell MH, Hutchison CA III (1986) Conservation throughout Mammalia and extensive protein-encoding capacity of the highly repeated DNA long interspersed sequence one. J Mol Biol 187:291–304

    PubMed  Google Scholar 

  • Clemens MJ (1987) A potential role for RNA transcribed from B2 repeats in the regulation of mRNA stability. Cell 49:157–158

    Article  PubMed  Google Scholar 

  • Daniels GR, Deininger PL (1985) Repeat sequence families derived from mammalian tRNA genes. Nature 317:819–822

    Article  PubMed  Google Scholar 

  • Davidson EH, Jacobs HT, Britten RJ (1983) Very short repeats and coordinate induction of genes. Nature 302:468–470

    Article  PubMed  Google Scholar 

  • Deininger PL, Daniels GR (1986) The recent evolution of mammalian repetitive DNA elements. Trends Genet 2:76–80

    Article  Google Scholar 

  • Doolittle WF, Sapienza C (1980) Selfish genes, the phenotype paradigm and genome evolution. Nature 284:601–603

    Article  PubMed  Google Scholar 

  • Dudley JP (1987) Discrete high molecular weight RNA transcribed from the long interspersed repetitive element L1Md. Nucleic Acids Res 15:2581–2592

    PubMed  Google Scholar 

  • Epstein ND, Karlsson S, O'Brien S, Modi W, Moulton A, Neinhuis AW (1987) A new moderately repetitive DNA sequence family of novel organization. Nucleic Acids Res 15:2327–2341

    PubMed  Google Scholar 

  • Feinberg AP, Vogelstein B (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13

    Article  PubMed  Google Scholar 

  • Haslem DB, Hoar DI (1984) Stepping across chromosomes using a repetitive DNA probe. Am J Hum Genet 36:A414

    Google Scholar 

  • Hastie N (1985) Middle repetitive DNA: amplification, homogeneity and mobility. Trends Genet 1:37

    Article  Google Scholar 

  • Hoar DI, Tynan KM, MDSC 717 Class (1987) Does Lambda reject selected repeat sequences? Am J Hum Genet 41:A219

    Google Scholar 

  • Jagadeeswaran P, Forget BG, Weissman SM (1981) Short interspersed repetitive DNA elements in eucaryotes: transposable DNA elements generated by reverse transcription of RNA Pol III transcripts? Cell 26:141–142

    Article  PubMed  Google Scholar 

  • Jeffreys AJ, Wilson V, Thein SL (1985) Hypervariable “minisatellite” regions in human DNA. Nature 314:67–73

    Article  PubMed  Google Scholar 

  • Jeffreys AJ, Royle NJ, Wilson V, Wong Z (1988) Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature 332:278–280

    Article  PubMed  Google Scholar 

  • Lewin B (1980) Gene expression, ed. 2. Eucaryotic chromosomes. Wiley, New York

    Google Scholar 

  • Madisen L, Hoar DI, Holroyd CD, Crisp M, Hodes ME (1987) DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet 27:379–390

    Article  PubMed  Google Scholar 

  • Maniatis T (1982) Molecular cloning (a laboratory manual). Cold Spring Harbor Laboratory, Cold Spring Harbor NY

    Google Scholar 

  • Marashi F, Prokopp K, Stein J, Stein G (1984) Evidence for a human histone gene cluster containing H2B and H2A pseudogenes. Proc Natl Acad Sci USA 81:1936–1940

    PubMed  Google Scholar 

  • Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T, Culver M, Martin C, Fujimoto E, Hoff M, Kumlin E, White R (1987a) Variable number of tandem repeat VNTR markers for human gene mapping. Science 235:1616–1622

    PubMed  Google Scholar 

  • Nakamura Y, Julier C, Wolff R, Holm T, O'Connell P, Leppert M, White R (1987b) Characterization of a human minisatellite sequence. Nucleic Acids Res 15:2537–2547

    PubMed  Google Scholar 

  • Needleman SB, Wunsch CD (1970) A general method applicable to the search for similarities in the amino acid sequence of two proteins. J Mol Biol 48:443–453

    Article  PubMed  Google Scholar 

  • Nei M (1975) Molecular population genetics and evolution. Frontiers of Biol Series. North Holland Publishing

  • Orgel LE, Crick FHC (1980) Selfish DNA: the ultimate parasite. Nature 284:604–607

    Article  PubMed  Google Scholar 

  • Paolella G, Lucerno AM, Murphy MH, Baralle FE (1983) The Alu family repeat promoter has a tRNA-like bi-partite structure. EMBO J 2:691–696

    Google Scholar 

  • Pfeffer D, Mierendorf R (1986) Direct sequencing of pGem™ plasmid: Klenow vs. reverse transcriptase. Promega Notes 5

  • Rose MR, Doolittle WF (1983) Molecular biological mechanisms of speciation. Science 220:157–162

    Google Scholar 

  • Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463–5467

    PubMed  Google Scholar 

  • Sawada I, Schmid CW, Deka N, Paulson KE, Willard C (1986) Repetitive human DNA sequences. Cold Spring Harbor Symp Quant Biol 51:470–477

    Google Scholar 

  • Schwindinger WF, Warner JR (1984) DNA sequence analysis on the IBM-PC. Nucleic Acids Res 12:601–604

    PubMed  Google Scholar 

  • Sierra F, Lichtler A, Marashi JR (1984) DNA sequence analysis on the IBM-PC. Nucleic Acids Res 12:601–604

    PubMed  Google Scholar 

  • Sierra F, Lichtler A, Marashi F, Rickles R, Van Dyke T, Clark S, Wells J, Stein G, Stein J (1982) Organization of human histone genes. Proc Natl Acad Sci USA 79:1795–1799

    PubMed  Google Scholar 

  • Smith GP (1986) Unequal crossover and the evolution of multigene families. Cold Spring Harbor Symp Quant Biol 51: 507–513

    Google Scholar 

  • Tynan KM, Hoar DI (1986). A human low copy repetitive probe (hMF #1) and its potential for estimating genetic and evolutionary distance. 7th International Congress of Human Genetics, Berlin, Abstracts, p 674

  • Tynan KM, Hoar DI (1987a) A tandemly repeating DNA sequence for molecular fingerprinting in the human genome. Am J Huma Genet 41:A242

    Google Scholar 

  • Tynan KM, Hoar DI (1987b) Transcription in a tissue specific pattern of a low copy repetitive sequence. Genet Soc Can Bull 18:HAG-3

    Google Scholar 

  • Tynan KM, Dimnik L, Starozik D, Hoar DI (1986) Definition of a new probe (hMF #1) for human molecular fingerprinting and zygosity testing. Gen Soc Can Bull 17:PGH-1

    Google Scholar 

  • Tynan KM, Hoar DI (1988) Inheritance of a hypervariable repeated sequence located on chromosome, 1 among different ethnic populations. Genome, 30:369 (abstract)

    Google Scholar 

  • Ullu E, Tschudi C (1984) Alu sequences are processed 7SL RNA genes. Nature 312:171–172

    PubMed  Google Scholar 

  • Van Arsdell SW, Weiner AM (1984) Human genes for U2 small nuclear RNA are tandemly repeated. Mol Cell Biol 4:492–499

    PubMed  Google Scholar 

  • Wahl GM, Stern M, Stark R (1979) Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethylpaper and rapid hybridization by using dextran sulphate. Proc Natl Acad Sci USA 79:3683–3687

    Google Scholar 

  • Walsh JB (1987) Sequence-dependent gene conversion: can duplicated genes diverge fast enough to escape conversion? Genetics 117:543–557

    PubMed  Google Scholar 

  • Wellauer PK, David IB (1979) Isolation and sequence organization of human ribosomal DNA. J Mol Biol 128:289–303

    Article  PubMed  Google Scholar 

  • Young KE, Willard HF, Smith KD (1981) Molecular and chromosomal organization and analysis of DNA methylation of the human Y chromosome-specific 2.1 kb HaeIII DNA fragment. Am J Hum Genet 33:60A

    Google Scholar 

Download references

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Authors and Affiliations

  1. Departments of Medical Biochemistry and Paediatrics, University of Calgary, Alberta, Childrens Hospital Research Centre, 1820 Richmond Road S.W., T2T 5C7, Calgary, Alberta, Canada

    Katherine M. Tynan & David I. Hoar

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  1. Katherine M. Tynan
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  2. David I. Hoar
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Tynan, K.M., Hoar, D.I. Primate evolution of a human chromosome 1 hypervariable repetitive element. J Mol Evol 28, 212–219 (1989). https://doi.org/10.1007/BF02102478

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  • DOI: https://doi.org/10.1007/BF02102478

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