© 1993 Oxford University Press
RESEARCH-ARTICLE |
Mutation of human short tandem repeats
Center for Medical Genetics, Marshfield Medical Research Foundation 1000 North Oak Avenue, Marshfield, WI 54449, USA
* To whom correspondence should be addressed
Received May 13, 1993; Revised June 14, 1993; Accepted June 14, 1993
A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be verified using DNA from untransformed cells. None of the cases where three alleles were observed In a single Individual could be verified using DNA from untransformed cells. The average mutation rate for the chromosome 19 STRPs after correction for events which would not be detectable as Mendelian errors was 1.2 x 10–3 per locus per gamete per generation. This rate may have been Inflated by somatic as opposed to germline events. Observed mutation rates for individual STRPs ranged from 0 to 8 x 10–3. The average mutation rate for tetranucleotide STRPs was nearly four times higher than the average rate for dinucleotide STRPs. For determination of the mode of mutation, events Involving STRPs on other chromosomes were also examined. Of the events which were verified using DNA from untransformed lymphocytes or which were likely among those for which DNA from untransformed cells was not available: none were located at the sites of melotic recombination, 91% Involved the gain or loss of a single repeat unit, and 15 occurred In the male germline compared to 4 in the female germline (p = 0.01).
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A. L. Bacon, S. M. Farrington, and M. G. Dunlop Sequence interruptions confer differential stability at microsatellite alleles in mismatch repair-deficient cells Hum. Mol. Genet., November 1, 2000; 9(18): 2707 - 2713. [Abstract] [Full Text] [PDF]
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M. Nishizawa and K. Nishizawa Amino acid and nucleotide recurrence in aligned sequences: synonymous substitution patterns in association with global and local base compositions Nucleic Acids Res., October 1, 2000; 28(19): 3801 - 3810. [Abstract] [Full Text] [PDF]
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 M. J. Sobrido, C. R. Pereira, F. Barros, J. Forteza, A. Carracedo, and M. Lema Low frequency of replication errors in primary nervous system tumours J. Neurol. Neurosurg. Psychiatry, September 1, 2000; 69(3): 369 - 375. [Abstract] [Full Text] [PDF]
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D. Bachtrog, M. Agis, M. Imhof, and C. Schlotterer Microsatellite Variability Differs Between Dinucleotide Repeat Motifs--Evidence from Drosophila melanogaster Mol. Biol. Evol., September 1, 2000; 17(9): 1277 - 1285. [Abstract] [Full Text] [PDF]
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 S. M. Richard, G. Bailliet, G. L. Páez, M. S. Bianchi, P. Peltomäki, and N. O. Bianchi Nuclear and Mitochondrial Genome Instability in Human Breast Cancer Cancer Res., August 1, 2000; 60(15): 4231 - 4237. [Abstract] [Full Text]
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J. Graham, J. Curran, and B. S. Weir Conditional Genotypic Probabilities for Microsatellite Loci Genetics, August 1, 2000; 155(4): 1973 - 1980. [Abstract] [Full Text]
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M. C. Fisher, G. Koenig, T. J. White, and J. W. Taylor A Test for Concordance Between the Multilocus Genealogies of Genes and Microsatellites in the Pathogenic Fungus Coccidioides immitis Mol. Biol. Evol., August 1, 2000; 17(8): 1164 - 1174. [Abstract] [Full Text] [PDF]
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K. A. Eckert and G. Yan Mutational analyses of dinucleotide and tetranucleotide microsatellites in Escherichia coli: influence of sequence on expansion mutagenesis Nucleic Acids Res., July 15, 2000; 28(14): 2831 - 2838. [Abstract] [Full Text] [PDF]
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B. Harr and C. Schlötterer Long Microsatellite Alleles in Drosophila melanogaster Have a Downward Mutation Bias and Short Persistence Times, Which Cause Their Genome-Wide Underrepresentation Genetics, July 1, 2000; 155(3): 1213 - 1220. [Abstract] [Full Text]
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B. Harr, B. Zangerl, and C. Schlotterer Removal of Microsatellite Interruptions by DNA Replication Slippage: Phylogenetic Evidence from Drosophila Mol. Biol. Evol., July 1, 2000; 17(7): 1001 - 1009. [Abstract] [Full Text] [PDF]
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