About this Journal Submit a Manuscript Table of Contents 
The Scientific World Journal
Volume 2012 (2012), Article ID 917235, 8 pages
doi:10.1100/2012/917235
Research Article

Mutation at the Human D1S80 Minisatellite Locus

Kuppareddi Balamurugan,1 Martin L. Tracey,2 Uwe Heine,3 George C. Maha,3 and George T. Duncan4

1School of Criminal Justice, University of Southern Mississippi, 118 College Drive # 5127, Hattiesburg, MS 39406, USA
2Department of Biology, Florida International University, University Park Campus, Miami, FL 33199, USA
3DNA Identification Testing Division, Laboratory Corporation of America, 1440 York Court Extension, Burlington, NC 27215, USA
4Broward County Sheriff's Office, Forensic Laboratory DNA Unit, Fort Lauderdale, FL 33301, USA

Received 30 October 2011; Accepted 5 January 2012

Academic Editors: P. Momigliano Richiardi, P. Y. Woon, and N. Zhang

Copyright © 2012 Kuppareddi Balamurugan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. B. Lewin, Genes IV., Oxford University Press, New York, NY, USA, 1990.
  2. G. F. Richard, A. Kerrest, and B. Dujon, “Comparative genomics and molecular dynamics of DNA repeats in eukaryotes,” Microbiology and Molecular Biology Reviews, vol. 72, no. 4, pp. 686–727, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. D. L. Ellsworth, M. D. Shriver, and E. Boerwinkle, “Nucleotide sequence analysis of the apolipoprotein B 3' VNTR,” Human Molecular Genetics, vol. 4, no. 5, pp. 937–944, 1995. View at Scopus
  4. R. Saferstein, Forensic Science Handbook, Regents/Prentice Hall, Englewood Cliffs, NJ, USA, 1993.
  5. J. A. L. Armour and A. J. Jeffreys, “Biology and applications of human minisatellite loci,” Current Opinion in Genetics and Development, vol. 2, no. 6, pp. 850–856, 1992. View at Scopus
  6. J. A. L. Armour, P. C. Harris, and A. J. Jeffreys, “Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability,” Human Molecular Genetics, vol. 2, no. 8, pp. 1137–1145, 1993. View at Scopus
  7. A. J. Jeffreys, V. Wilson, and S. L. Thein, “Hypervariable 'minisatellite' regions in human DNA,” Nature, vol. 314, no. 6006, pp. 67–73, 1985. View at Scopus
  8. W. Stephan, “Tandem-repetitive noncoding DNA: forms and forces,” Molecular Biology and Evolution, vol. 6, no. 2, pp. 198–212, 1989. View at Scopus
  9. G. P. Smith, “Evolution of repeated DNA sequences by unequal crossover,” Science, vol. 191, no. 4227, pp. 528–535, 1976. View at Scopus
  10. P. R. J. Bois, “Hypermutable minisatellites, a human affair?” Genomics, vol. 81, no. 4, pp. 349–355, 2003. View at Publisher · View at Google Scholar · View at Scopus
  11. C. B. Kunst and S. T. Warren, “Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles,” Cell, vol. 77, no. 6, pp. 853–861, 1994. View at Publisher · View at Google Scholar · View at Scopus
  12. A. J. Jeffreys, A. MacLeod, K. Tamaki, D. L. Neil, and D. Monckton, “Minisatellite repeat coding as a digital approach to DNA typing,” Nature, vol. 354, no. 6350, pp. 204–209, 1991. View at Publisher · View at Google Scholar · View at Scopus
  13. R. K. Wolff, R. Plaetke, A. J. Jeffreys, and R. White, “Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci,” Genomics, vol. 5, no. 2, pp. 382–384, 1989. View at Scopus
  14. A. J. Jeffreys, M. J. Allen, J. A. L. Armour et al., “Mutation processes at human minisatellites,” Electrophoresis, vol. 16, no. 9, pp. 1577–1585, 1995. View at Scopus
  15. I. C. Gray and A. J. Jeffreys, “Evolutionary transience of hypervariable minisatellites in man and the primates,” Proceedings of the Royal Society B, vol. 243, no. 1308, pp. 241–253, 1991. View at Scopus
  16. K. Kasai, Y. Nakamura, and R. White, “Amplification of a variable number of tandem repeats (VNTR) locus (pMCT118) by the polymerase chain reaction (PCR) and its application to forensic science,” Journal of Forensic Sciences, vol. 35, no. 5, pp. 1196–1200, 1990. View at Scopus
  17. Y. Nakamura, M. Carlson, K. Krapcho, and R. White, “Isolation and mapping of a polymorphic DNA sequence (pMCT118) on chromosome 1p [D1S80],” Nucleic Acids Research, vol. 16, no. 19, p. 9364, 1988. View at Scopus
  18. W. James Kent, C. W. Sugnet, T. S. Furey et al., “The human genome browser at UCSC,” Genome Research, vol. 12, no. 6, pp. 996–1006, 2002. View at Publisher · View at Google Scholar · View at Scopus
  19. W. J. Kent, “BLAT—the BLAST-like alignment tool,” Genome Research, vol. 12, no. 4, pp. 656–664, 2002. View at Publisher · View at Google Scholar · View at Scopus
  20. B. Budowle, R. Chakraborty, A. M. Giusti, A. J. Eisenberg, and R. C. Allen, “Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE,” American Journal of Human Genetics, vol. 48, no. 1, pp. 137–144, 1991. View at Scopus
  21. A. Sajantila, B. Budowle, M. Strom et al., “PCR amplification of alleles at the D1S80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation,” American Journal of Human Genetics, vol. 50, no. 4, pp. 816–825, 1992. View at Scopus
  22. R. Deka, S. DeCroo, L. Jin et al., “Population genetic characteristics of the D1S80 locus in seven human populations,” Human Genetics, vol. 94, no. 3, pp. 252–258, 1994. View at Scopus
  23. K. Balamurugan, R. Pomeroy, G. Duncan, and M. Tracey, “Investigating SNPs flanking the D1S80 locus in a Tamil population from India,” Human Biology, vol. 82, no. 2, pp. 221–226, 2010. View at Publisher · View at Google Scholar · View at Scopus
  24. K. Balamurugan, N. Prabakaran, G. Duncan, B. Budowle, M. Tahir, and M. Tracey, “Allele frequencies of 13 STR loci and the D1S80 locus in a Tamil population from Madras, India,” Journal of Forensic Sciences, vol. 46, no. 6, pp. 1515–1517, 2001. View at Scopus
  25. S. K. Shapira, C. McCaskill, H. Northrup et al., “Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome,” American Journal of Human Genetics, vol. 61, no. 3, pp. 642–650, 1997. View at Scopus
  26. G. T. Duncan, K. Balamurugan, B. Budowle, and M. L. Tracey, “Hinf I/Tsp509 I and BsoF I polymorphisms in the flanking regions of the human VNTR locus D1S80,” Genetic Analysis, vol. 13, no. 5, pp. 119–121, 1996. View at Publisher · View at Google Scholar · View at Scopus
  27. S. A. Limborska, A. V. Khrunin, O. V. Flegontova, V. A. Tasitz, and D. A. Verbenko, “Specificity of genetic diversity in D1S80 revealed by SNP-VNTR haplotyping,” Annals of Human Biology, vol. 38, no. 5, pp. 564–569, 2011. View at Publisher · View at Google Scholar
  28. Annual Report Summary for Testing in 2008, Prepared by the Relationship Testing Program Unit, http://www.aabb.org/sa/facilities/Documents/rtannrpt08.pdf.
  29. J. J. Wiens and M. R. Servedio, “Phylogenetic analysis and intraspecific variation: performance of parsimony, likelihood, and distance methods,” Systematic Biology, vol. 47, no. 2, pp. 228–253, 1998. View at Scopus
  30. E. Sober, “The contest between parsimony and likelihood,” Systematic Biology, vol. 53, no. 4, pp. 644–653, 2004. View at Publisher · View at Google Scholar · View at Scopus
  31. A. J. Jeffreys, K. Tamaki, A. MacLeod, D. G. Monckton, D. L. Neil, and J. A. L. Armour, “Complex gene conversion events in germline mutation at human minisatellites,” Nature Genetics, vol. 6, no. 2, pp. 136–145, 1994. View at Publisher · View at Google Scholar · View at Scopus
  32. K. Tamaki, C. H. Brenner, and A. J. Jeffreys, “Distinguishing minisatellite mutation from non-paternity by MVR-PCR,” Forensic Science International, vol. 113, no. 1–3, pp. 55–62, 2000. View at Publisher · View at Google Scholar · View at Scopus
  33. Y. E. Dubrova, G. Grant, A. A. Chumak, V. A. Stezhka, and A. N. Karakasian, “Elevated minisatellite mutation rate in the post-chernobyl families from Ukraine,” American Journal of Human Genetics, vol. 71, no. 4, pp. 801–809, 2002. View at Scopus
  34. A. J. Jeffreys, P. Bois, J. Buard et al., “Spontaneous and induced minisatellite instability,” Electrophoresis, vol. 18, no. 9, pp. 1501–1511, 1997. View at Publisher · View at Google Scholar · View at Scopus
  35. A. Sajantila, M. Lukka, and A. C. Syvänen, “Experimentally observed germline mutations at human micro- and minisatellite loci,” European Journal of Human Genetics, vol. 7, no. 2, pp. 263–266, 1999. View at Scopus
  36. M. D. Shriver, Origins and evolution of VNTR loci: the apolipoprotein B 3' VNTR, Ph.D. thesis, The University of Texas Health Science Center at Houston, Houston, Tex, USA, 1993.
  37. M. D. Shriver, L. Jin, R. Chakraborty, and E. Boerwinkle, “VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach,” Genetics, vol. 134, no. 3, pp. 983–993, 1993. View at Scopus
  38. I. Berg, R. Neumann, H. Cederberg, U. Rannug, and A. J. Jeffreys, “Two modes of germline instability at human minisatellite MS1 (locus D1S7): complex rearrangements and paradoxical hyperdeletion,” American Journal of Human Genetics, vol. 72, no. 6, pp. 1436–1447, 2003. View at Publisher · View at Google Scholar · View at Scopus