Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Roewer, Lutz; Arnemann, J.; Spurr, N.K.; Grzeschik, Karl‐Heinz; Epplen, Jörg T.

doi:10.1007/bf00194309

Cited by 239 publications

(135 citation statements)

References 29 publications

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“…Sequence 2 was actually described as being an allele from a different locus, DYS394 (GenBank accession number G10053), which, however, proved to be the same as DYS19 (Jobling and Tyler-Smith 1995). Sequence 3 is the Caucasian A allele (10 repeats) sequenced in the original description of DYS19 (Roewer et al 1992). Sequences 4-6 are the Amerindian A alleles (10 repeats) sequenced in the present study.…”

Section: Structural Features Of Both Repeat and Flanking Regionsmentioning

confidence: 58%

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Divergent Human Y-Chromosome Microsatellite Evolution Rates

et al. 1999

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Abstract:In this work, we analyze several characteristics influencing the low variability of the microsatellite DYS19 in the major founder Amerindian Y chromosome lineage containing the point mutation DYS199-T. Variation of DYS19 was compared with that of five other Y-linked tetranucleotide repeat loci (DYS389A, DYS389B, DYS390, DYS391, and DYS393) in the DYS199-T lineage. All the other microsatellites showed significantly higher levels of variability than DYS19 as measured by gene diversity and repeat number variance. Moreover, we had previously shown that DYS19 had high diversity in Brazilians and in several other populations worldwide. Thus, the slow DYS19 evolution in the DYS199-T lineage seems to be both locus and allele specific. To understand the slow DYS19 evolutionary rate, the microsatellite loci were compared according to their mapping on the Y chromosome and also on the basis of structural aspects such as the base composition of the repeat motif and flanking regions and the degree of perfection and size (repeat number) of the variable blocks. The only observed difference that might be related to the low DYS19 variability is its small average number of repeats, a value expected to be closer to the founder DYS19 allele in the DYS199-T lineage. These data were also compared to other derived Y lineages. The Tat-C lineage displayed a lower DYS19 variability correlated to a small average repeat number, while in the DYS234-G lineage, a high DYS19 variability was found associated to a larger average repeat number. This approach reveals that evolution of Y microsatellites in lineages defined by slowly evolving markers, such as point mutations, can be greatly influenced by the size (number of repeats of the variable block) of the founder allele in each microsatellite locus. Thus lineage-dating methods using microsatellite variation should be practiced with great care.

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Section: Structural Features Of Both Repeat and Flanking Regionsmentioning

confidence: 58%

“…3). No difference in sequence was observed compared with the Caucasian 10-repeat allele (Roewer et al 1992). When two Caucasian alleles (11-and 12-repeat) and one Bushman allele (9-repeat) were compared with the Amerindian 10-repeat alleles, the only differences observed were in the number of GATA repeats.…”

Section: Dys19 Flanking Regions and Repeat Blocksmentioning

confidence: 83%

Divergent Human Y-Chromosome Microsatellite Evolution Rates

et al. 1999

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“…The numbers of Caucasians and Negroes examined in the present study was very small. In Caucasians, there was also difference in frequencies of the alleles between studies by us and Roewer et al (1992). The difference was considered as bias caused by our small sampling size.…”

Section: Resultsmentioning

confidence: 81%

“…They were included in our previous study on the 47z locus (Lin et al, 1994). The set of oligonucleotide primers used were those designed by Roewer et al (1992). They amplified clustered (gata)n repeats in the DYS19 locus on Yp.…”

Section: Methodsmentioning

confidence: 99%

“…The Y chromosome contains tandem repetitive sequences. A polymorphism of a (GATA)n tetranucleotide-repeat type has been identified (Arnemann et aL, 1986) and this polymorphism can be examined by polymerase chain reaction (PCR) (Roewer et aL, 1992). The allele distributions of this locus have been reported in various populations (Santos et aL, 1993;Gomolka et aL, 1994).…”

Section: Introductionmentioning

confidence: 99%

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Long Y-associated (GATA)n alleles were observed in a few ethnic groups in Asia

Lin

Nakahori

et al. 1996

Jap J Human Genet

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SummaryA Y-associated polymorphic locus, DYS19, was analyzed in a few ethnic groups in Asia and compared with that in Caucasians and Negroes. The locus contains 4-nucleotide repeats, (GATA)n, and the length of the repeated segments can be determined by the polymerase chain reaction (PCR). The predominant allele was 202 bp followed by 198 bp in all the 3 Asian populations examined. Long repeats that were rare in other populations were found more frequently in these Asian populations.

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Fully mutated and gray-zoneFRAXA alleles in Brazilian mentally retarded boys

et al. 1999

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We used a non-isotopic polymerase chain reaction (PCR) technique for fragile X syndrome diagnosis to screen 256 mentally retarded boys who were selected randomly from special schools. Patients identified as pre- or full-mutation carriers were further investigated by Southern blot analysis with the StB12.3 probe. The PCR-based test identified five boys with the expanded allele and 17 other patients as carriers of either premutated or gray-zone alleles. The full mutation was confirmed in four cases after Southern blotting and a fifth patient carried a normal allele. Of the 17 patients identified with a premutation allele by PCR, one individual was diagnosed as mosaic by Southern blotting, 12 individuals displayed fragments of 2.90 kb or 2.85 kb, and the remaining four individuals showed apparently normal-sized fragments. However, sizing of these 16 alleles by further PCR analysis showed them to be in the gray-zone range (40-60 repeats). Therefore, the frequency of the full mutation in this cohort of mentally retarded boys was close to 2% (5/256). The prevalence of gray-zone alleles among those mentally impaired boys who did not carry the full mutation was 6.4% (16/251) and, although more than twice the prevalence of these alleles among a cohort of unaffected Brazilian males 2.8% (71251), the difference did not reach statistical significance.

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Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Cited by 239 publications

References 29 publications

Divergent Human Y-Chromosome Microsatellite Evolution Rates

Divergent Human Y-Chromosome Microsatellite Evolution Rates

Long Y-associated (GATA)n alleles were observed in a few ethnic groups in Asia

Fully mutated and gray-zoneFRAXA alleles in Brazilian mentally retarded boys

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