Recent observations in human DNA-minisatellite mutations

Henke, Jürgen; Henke, Lotte

doi:10.1007/bf01428407

Cited by 18 publications

(11 citation statements)

References 32 publications

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“…The mutation rate was 0.72% in our While four of the five mutations occurred on the paternal chromosome, the mutation in case 3 could not be allocated to either the paternal or maternal chromosome ( Table 2). The excess of paternal mutations is in accordance with observations in RFLP systems (Henke and Henke 1995) and earlier observations on the ACTBP2 locus and can be explained by the fact that there are at least 10 times more cell divisions between the zygote and sperm than between the zygote and ova (Crow 1993). As observed for other loci (Weber and Wong 1993), most mutations generated larger alleles and the allele of the child was smaller than that of the putative father only in case 2.…”

Section: Discussionsupporting

confidence: 86%

A study on the short tandem repeat system ACTBP2 (SE33) in an Austrian population sample

Klintschar

Neuhuber

1997

International Journal of Legal Medicine

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Population genetic studies were carried out on 932 caucasians from Austria using the short tandem repeat system ACTBP2 (SEE33). A sequenced allelic ladder was used for typing (Möller et al. 1995). After native polyacrylamide gel electrophoresis all 26 alleles of the ladder were found as well as 194 alleles which migrated differently from those in the ladder. Forensically relevant parameters were calculated (discrimination power: 0.989, mean exclusion chance: 0.854, observed heterozygosity 0.946). An allele consisting of 9 repeats which is not part of the allelic ladder was also found. In 692 meioses 5 mutations were found (mutation rate 0.72%).

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Section: Discussionsupporting

confidence: 86%

A study on the short tandem repeat system ACTBP2 (SE33) in an Austrian population sample

Klintschar

Neuhuber

1997

International Journal of Legal Medicine

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“…As observed in RFLP (Henke and Henke 1995) and other STR systems (Brinkmann et al 1995;Klintschar and Neuhuber 1998), repeat mutations are often of paternal origin, correlating with the fact that at least 10 times more cell divisions occur between the zygote and sperm than between the zygote and ovum (Vogel and Rathenberg 1975;Crow 1993). This case also illustrates that mutations tend to generate larger alleles (Weber and Wong 1993).…”

Section: Resultsmentioning

confidence: 69%

Mutation of the repeat number of the HPRTB locus and structure of rare intermediate alleles

Mertens

Gielis

Mommers

et al. 1999

International Journal of Legal Medicine

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During routine paternity testing a mutation of a paternal allele at the HPRTB locus was observed. The opportunity was taken to analyse this mutation at a molecular level. The repeat sequence is flanked by an imperfect repeat sequence and this region could be involved in the mutation mechanism. For this reason, we also examined the structure of "intermediate" alleles. Sequencing confirmed the insertion of a perfect repeat motif and revealed a deletion of a dinucleotide some 50 nucleotides downstream from the repeat sequence for the intermediate alleles. It is likely that these intermediate alleles are rare biallelic deletion polymorphisms and are probably not involved in the mutation or variation mechanism of this locus.

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“…The most straightforward connection is that the minisatellite mutation rate is positively correlated with the number of germline cell divisions, due to mutations during replication. Indeed, most human minisatellite loci show a strong male-biased mutation rate [56-58], as do avian minisatellites [59,60]. However, sequence analyses of human minisatellite mutations unravel inter-allelic recombination or gene conversion-like events, most likely of meiotic origin [61-64].…”

Section: Discussionmentioning

confidence: 99%

Sexual selection, germline mutation rate and sperm competition

Møller

Cuervo

2003

BMC Evol Biol

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Background: An important component of sexual selection arises because females obtain viability benefits for their offspring from their mate choice. Females choosing extra-pair fertilization generally favor males with exaggerated secondary sexual characters, and extra-pair paternity increases the variance in male reproductive success. Furthermore, females are assumed to benefit from 'good genes' from extra-pair sires. How additive genetic variance in such viability genes is maintained despite strong directional selection remains an evolutionary enigma. We propose that sexual selection is associated with elevated mutation rates, changing the balance between mutation and selection, thereby increasing variance in fitness and hence the benefits to be obtained from good genes sexual selection. Two hypotheses may account for such elevated mutation: (1) Increased sperm production associated with sperm competition may increase mutation rate. (2) Mutator alleles increase mutation rates that are revealed by the expression of condition-dependent secondary sexual characters used by choosy females during their mate choice. M Petrie has independently developed the idea that mutator alleles may account for the maintenance of genetic variation in viability despite strong directional selection.

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Recent observations in human DNA-minisatellite mutations

Cited by 18 publications

References 32 publications

A study on the short tandem repeat system ACTBP2 (SE33) in an Austrian population sample

A study on the short tandem repeat system ACTBP2 (SE33) in an Austrian population sample

Mutation of the repeat number of the HPRTB locus and structure of rare intermediate alleles

Sexual selection, germline mutation rate and sperm competition

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