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Organization and evolution of an alpha satellite DNA subset shared by human chromosomes 13 and 21

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Abstract

The structure of the alpha satellite DNA higher-order repeat (HOR) unit from a subset shared by human chromosomes 13 and 21 (D13Z1 and D21Z1) has been examined in detail. By using a panel of hybrids possessing either a chromosome 13 or a chromosome 21, different HOR unit genotypes on chromosomes 13 and 21 have been distinguished. We have also determined the basis for a variant HOR unit structure found on ∼8% of chromosomes 13 but not at all on chromosomes 21. Genomic restriction maps of the HOR units found on the two chromosome 13 genotypes and on the chromosome 21 genotype are constructed and compared. The nucleotide sequence of a predominant 1.9-kilobasepair HOR unit from the D13Z1/D21Z1 subset has been determined. The DNA sequences of different alpha satellite monomers comprising the HOR are compared, and the data are used to develop a model, based on unequal crossing-over, for the evolution of the current HOR unit found at the centromeres of both these chromosomes.

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References

  • Alexandrov IA, Mashkova TD, Akopian TA, Medvedev LI, Kisselev LL, Mitkevech SP, Yurov YB (1991) Chromosomespecific alpha satellites: two distinct families on chromosome 18. Genomics 11:15–23

    Google Scholar 

  • Alexandrov IA, Mitkevich SP, Yurov YB (1988) The phylogeny of human chromosome specific alpha satellites. Chromosoma 96:443–453

    Google Scholar 

  • Charlieu JP, Murgue B, Laurent AM, Marcais B, Bellis M, Roizes G (1992) Discrimination between alpha satellite DNA sequences from chromosomes 21 and 13 by using polymerase chain reaction. Genomics 14:515–516

    Google Scholar 

  • Cheung SW, Sun L, Featherstone T (1990) Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations. Cytogenet Cell Genet 54:97–102

    Google Scholar 

  • Choo KH (1990) Role of acrocentric cen-pter satellite DNA in Robertsonian translocation and chromosomal non-disjunction. Mol Biol Med 7:437–449

    Google Scholar 

  • Choo KH, Earle E, Vissel B, Filby RG (1990) Identification of two distinct subfamilies of Alpha satellite DNA that are highly specific for human chromosome 15. Genomics 7:143–151

    Google Scholar 

  • Choo KH, Vissel B, Brown R, Filby RG, Earle E (1988) Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologous and Robertsonian translocations. Nucleic Acids Res 16:1273–1284

    Google Scholar 

  • Choo KH, Vissel B, Earle E (1989) Evolution of alpha satellite DNA on human acrocentric chromosomes. Genomics 5:332–344

    Google Scholar 

  • Choo KH, Vissel B, Nagy A, Earle E, Kalitsis P (1991) A survey of the genomic distribution of alpha satellite DNA on all the human chromosomes, and derivation of a new consensus sequence. Nucleic Acids Res 19:1179–1182

    Google Scholar 

  • Devereux J, Haeberli P, Smithies O (1984) A comprehensive set of sequence analysis programs for the vax. Nucleic Acids Res 12:387–395

    Google Scholar 

  • Devilee P, Cremer T, Slagboom P, Bakker E, Scholl HP, Hager HD, Stevenson AFG, Cornelisse CJ, Pearson PL (1986) Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentromeric regions of chromosomes 13, 18, and 21. Cytogenet Cell Genet 41:193–201

    Google Scholar 

  • Dover GA (1982) Molecular drive: a cohesive mode of species evolution. Nature 299:111–117

    Google Scholar 

  • Dover GA (1987) DNA turnover and the molecular clock. J Mol Evol 26:47–58

    Google Scholar 

  • Dover GA (1989) Linkage disequilibrium and molecular drive in the rDNA gene family. Genetics 122:249–252

    Google Scholar 

  • Felsenstein J (1990) Drawgram and drawtree of phylip (phylogeny interface package)

  • Gosden JR, Lawrie SS, Gosden CM (1981) Satellite DNA sequences in the human acrocentric chromosomes: information from translocations and heteromorphisms. Am J Hum Genet 33:243–251

    Google Scholar 

  • Ge Y, Wagner MJ, Siciliano M, Wells DE (1992) Sequence, higher-order repeat structure, and long-range organization of alpha satellite DNA specific to human chromosome 8. Genomics 13:585–593

    Google Scholar 

  • Greig GM, Willard HF (1992) β satellite DNA: characterization and localization of two subfamilies from the distal and proximal short arms of the human acrocentric chromosomes. Genomics 12:573–580

    Google Scholar 

  • Jabs EW, Warren AC, Taylor EW, Colyer CR, Meyers DA, Antonarakis SE (1991) Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both. Genomics 9:141–146

    Google Scholar 

  • Jørgensen AL, Bostock CJ, Bak AL (1987) Homologous subfamilies of human alphoid repetitive DNA on different nucleolus organizing chromosomes. Proc Natl Acad Sci USA 84:1075–1079

    Google Scholar 

  • Jørgensen AL, Kølvraa S, Jones C, Bak AL (1988) A subfamily of alphoid repetitive DNA shared by the NOR-bearing human chromosomes 14 and 22. Genomics 3:100–109

    Google Scholar 

  • Mahtani MM, Willard HF (1988) A primary genetic map of the pericentromeric region of the human X chromosome. Genomics 2:294–301

    Google Scholar 

  • Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY

    Google Scholar 

  • McDermid HE, Duncan AMV, Higgins MJ, Hamerton JL, Rector E, Brasch KR, White BN (1986) Isolation and characterization of an alpha-satellite repeated sequence from human chromosome 22. Chromosoma 94:228–234

    Google Scholar 

  • Ohta T (1980) Evolution and variation of multigene families. In: Levin S (series ed) Lecture notes in biomathematics vol 37. Springer-Verlag, NY

    Google Scholar 

  • Ohta T, Dover GA (1983) Population genetics of multigene families that are dispersed into two or more chromosomes. Proc Natl Acad Sci USA 80:4079–4083

    Google Scholar 

  • Rosenberg H, Singer M, Rosenberg M (1978) Highly reiterated sequences of simians. Science 200:394–402

    Google Scholar 

  • Saitou N, Nei M (1987) The neighbor joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 4:406–425

    Google Scholar 

  • Smith GP (1976) Evolution of repeated sequences by unequal crossover. Science 191:528–535

    Google Scholar 

  • Sokal RR, Michener CD (1958) A statistical method for evaluating systematic relationships. U Kansas Sci Bull 38:1409–1437

    Google Scholar 

  • Vissel B, Choo KH (1991) Four distinct alpha satellite subfamilies shared by human chromosomes 13, 14 and 21. Nucleic Acids Res 19:271–277

    Google Scholar 

  • Vissel B, Choo KHA (1992) Evolutionary relationships of multiple alpha satellite subfamilies in the centromeres of human chromosomes 13, 14, and 21. J Mol Evol 35:137–146

    Google Scholar 

  • Warburton P, Greig GM, Haaf T, Willard HF (1991) PCR amplification of chromosome-specific alpha satellite DNA: definition of centromeric STS markers and polymorphic analysis. Genomics 11:324–333

    Google Scholar 

  • Warburton PE, Willard HF (1990) Genomic analysis of sequence variation in tandemly repeated DNA: evidence for localized homogeneous sequence domains within arrays of alpha satellite DNA. J Mol Biol 216:3–16

    Google Scholar 

  • Warburton PE, Willard HF (1992) PCR amplification of tandemly repeated DNA: analysis of intra- and interchromosomal sequence variation and homologous unequal crossing-over in human alpha satellite DNA. Nucleic Acids Res 20:6033–6042

    Google Scholar 

  • Warren AC, Bowcock AM, Farrier LA, Antonarakis SE (1990) An alpha satellite DNA polymorphism specific for the centromeric region of chromosome 13. Genomics 7:110–114

    Google Scholar 

  • Waye JS, England SB, Willard HF (1987a) Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome. Mol Cell Biol 7:349–356

    Google Scholar 

  • Waye JS, Greig GM, Willard HF (1987b) Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11. Hum Genet 77:151–156

    Google Scholar 

  • Waye JS, Mitchell AR, Willard HF (1988) Organization and genomic distribution of “82H” alpha satellite DNA: evidence for a low-copy or single-copy alphoid domain located on human chromosome 14. Hum Genet 78:27–32

    Google Scholar 

  • Waye JS, Willard HF (1986) Structure, organization, and sequence of alpha satellite DNA from human chromosome 17: evidence for evolution by unequal crossing-over and an ancestral pentamer repeat shared with the human X chromosome. Mol Cell Biol 6:3156–3165

    Google Scholar 

  • Wevrick R, Willard HF (1989) Long-range organization of tandem arrays of alpha satellite DNA at the centromeres of human chromosomes: high frequency array-length polymorphism and meiotic stability. Proc Natl Acad Sci USA 86:9394–9398

    Google Scholar 

  • Willard H, Goss S, Holmes M, Munroe D (1985) Regional localization of the phosphoglucerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19. Hum Genet 71:138–143

    Google Scholar 

  • Willard HF (1985) Chromosome-specific organization of human alpha satellite DNA. Am J Hum Genet 37:524–532

    Google Scholar 

  • Willard HF (1990) Centromeres of mammalian chromosomes. Trends Genet 6:410–416

    Google Scholar 

  • Willard HF (1991) Evolution of alpha satellite. Curr Opin Genet Dev 1:509–514

    Google Scholar 

  • Willard HF, Riordan JR (1985) Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940–942

    Google Scholar 

  • Willard HF, Waye JS (1987a) Chromosome-specific subsets of human alpha satellite DNA: analysis of sequence divergence within and between chromosomal subsets and evidence for an ancestral pentameric repeat. J Mol Evol 25:207–214

    Google Scholar 

  • Willard HF, Waye JS (1987b) Hierarchical order in chromosome-specific human alpha satellite DNA. Trends Genet 3:192–198

    Google Scholar 

  • Worton RG, Duff C, Sylvester JE, Schmickel RD, Willard HF (1984) Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science 224:1447–1449

    Google Scholar 

  • Wu JC, Manuelidis L (1980) Sequence definition and organization of a human repeated DNA. J Mol Biol 182:363–386

    Google Scholar 

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Correspondence to: H.F. Willard

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Greig, G.M., Warburton, P.E. & Willard, H.F. Organization and evolution of an alpha satellite DNA subset shared by human chromosomes 13 and 21. J Mol Evol 37, 464–475 (1993). https://doi.org/10.1007/BF00160427

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  • DOI: https://doi.org/10.1007/BF00160427

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