Summary
The pericentromeric region of human chromosomes is composed of diverse classes of repetitive DNAs, which provide a rich source of genetic variability. Here, we describe two novel centromeric polymorphisms associated with a subset of alpha satellite repetitive DNA, D11Z1, which is specific for human chromosome 11. Segregation and inheritance of the polymorphisms are demonstrated and their relative frequencies are determined. These polymorphisms may be useful genetic tools for distinguishing between individual chromosome 11 centromeres. In addition, these polymorphisms may be applied to the development of a centromerebased genetic linkage map of chromosome 11. Molecular models for the generation of these polymorphisms are discussed.
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References
Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map using restriction fragment length polymorphisms. Am J Hum Genet 32: 314–331
Cavalli-Sforza LL, Bodmer WF (1971) The genetics of human populations. Freeman, San Francisco
Devilee P, Slagboom P, Cornelisse CJ, Pearson PL (1986) Sequence heterogeneity within the human alphoid repetitive DNA family. Nucleic Acids Res 14: 2059–2073
Fearon ER, Vogelstein B, Feinberg AP (1984) Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumor. Nature 309: 176–178
Harris H (1980) The principles of human biochemical genetics, 3rd edn. Elsevier/North Holland, New York
Human Gene Mapping 8 (1985) 8th International Workshop on Human Gene Mapping 1985. Cytogenet Cell Genet 40: 1–824
Jabs EW, Wolf SF, Migeon BR (1984) Characterization of a cloned DNA sequence that is present at the centromeres of all human autosomes and the X chromosome and shows polymorphic variation. Proc Natl Acad Sci USA 81: 4884–4888
Jabs EW, Meyers DA, Bias WN (1986) Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes. Am J Hum Genet 38: 297–308
Jeffreys AJ, Wilson V, Thein SL (1985) Hypervariable “minisatellite” regions in human DNA. Nature 314: 67–73
Jorgensen AL, Bostock CJ, Bak AL (1986) Chromosome-specific subfamilies within human alphoid repetitive DNA. J Mol Biol 187: 185–196
Koufos A, Hansen MF, Lampkin BC, Workman ML, Copeland NG, Jenkins NA, Cavenee WK (1984) Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumor. Nature 309: 170–172
McDermid HE, Duncan AMV, Higgins MJ, Hamerton JL, Rector E, Brasch KR, White BN (1986) Isolation and characterization of an alpha satellite repeated DNA sequence from human chromosome 22. Chromosoma 94: 228–234
Mitchell AR, Gosden JR, Miller DA (1985) A cloned sequence, p82H, of alphoid DNA found at the centromeres of all human chromosomes. Chromosoma 92: 369–377
Nakamura Y, Julier C, Wolff R, Holm T, O'Connell P, Leppert M, White R (1987) Characterization of a human “midisatellite” sequence. Nucleic Acids Res 15:2537–2547
Orkin SH, Goldman DS, Sallen SE (1984) Development of homozygosity for chromosome 11p markers in Wilms' tumor. Nature 309: 172–174
Reeve AE, Housiaux PJ, Gardner RJM, Chewings WE, Grindley RM, Millow LM (1984) Loss of Harvey ras allele in sporatic Wilms' tumor. Nature 309: 174–176
Smith GP (1976) Evolution of repeated DNA sequences by unequal crossover. Science 191: 528–535
Southern EM (1975) Long range periodicities in mouse satellite DNA. J Mol Biol 94: 51–69
Waye JS, Willard HF (1985) Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome. Nucleic Acids Res 13: 2731–2743
Waye JS, Willard HF (1986a) Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation. Nucleic Acids Res 14: 6915–6927
Waye JS, Willard HF (1986b) 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
Waye JS, Creeper LA, Willard HF (1987a) Isolation and characterization of chromosome-specific alpha satellite DNA from human chromosome 11. Chromosoma (in press)
Waye JS, England SB, Willard HF (1987b) Genomic organization of chromosome-specific alpha satellite from human chromosome 7: evidence for two distinct alphoid domains on a single chromosome. Mol Cell Biol 7: 349–356
Willard HF (1985) Chromosome-specific organization of human alpha satellite DNA. Am J Hum Genet 37: 524–532
Willard HF, Smith KD, Sutherland J (1983) Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res 11: 2017–2033
Willard HF, Waye JS, Skolnick MH, Schwartz CE, Powers VE, England SB (1986) Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes using chromosome-specific alpha satellite DNA: implications for the development of centromere-based genetic linkage maps. Proc Natl Acad Sci USA 83: 5611–5615
Wolfe J, Darling SM, Erickson PR, Craig IW, Buckle VJ, Rigly PWJ, Willard HF, Goodfellow PN (1985) Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 182: 477–485
Yang T, Hansen S, Oishi K, Ryder O, Hamkalo BA (1982) Characterization of a cloned repetitive DNA sequence concentrated on the human X chromosome. Proc Natl Acad Sci USA 79: 6593–6597
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Waye, J.S., Greig, G.M. & Willard, H.F. Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11. Hum Genet 77, 151–156 (1987). https://doi.org/10.1007/BF00272383
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DOI: https://doi.org/10.1007/BF00272383