Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes

Tyler-Smith, Christopher

doi:10.1016/0168-9525(94)90222-4

Cited by 92 publications

(25 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These results indicate that DYS19 and DYS393 both mapped to the short arm, while DYS389, DYS390, and DYS391 were located on the long arm. Moreover, DYS19 and DYS390 were unambiguously assigned to intervals 5 (where the 50f2/B locus is situated) and 14 (together with the GMG XY3 and 25H4 loci), respectively (Tyler-Smith et al 1993). On the other hand, we could locate DYS389 between the 14A3C (interval 11) and the RBF5 (interval 12) loci, thus creating another interval not determined before (Tyler-Smith et al 1993).…”

Section: Mapping Of the Microsatellites On The Y Chromosomementioning

confidence: 96%

“…The first, originally described by Tyler-Smith et al (1993), made use of a deletion panel composed of 33 cell lines carrying varied deletions of the Y chromosome. Each cell line was analyzed by PCR amplification and the products were resolved on 6% polyacrylamide gels and silverstained.…”

Section: Chromosomal Mapping Of the Six Y Microsatellite Locimentioning

confidence: 99%

“…The deletion panel (Tyler-Smith et al 1993) divides the human Y chromosome into 24 intervals, with the centromere located in interval 8. This means that from interval 1 to interval 7, this panel represents the short arm of the Y, while the long arm lies between intervals 9 and 24.…”

Section: Mapping Of the Microsatellites On The Y Chromosomementioning

confidence: 99%

“…The presence of the locus is indicated by a plus sign. These results were compared to the mapping interval determined by 56 loci according to the original article (Tyler-Smith et al 1993). These results indicate that DYS19 and DYS393 both mapped to the short arm, while DYS389, DYS390, and DYS391 were located on the long arm.…”

Section: Mapping Of the Microsatellites On The Y Chromosomementioning

confidence: 99%

See 3 more Smart Citations

Divergent Human Y-Chromosome Microsatellite Evolution Rates

et al. 1999

View full text Add to dashboard Cite

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.

show abstract

Section: Mapping Of the Microsatellites On The Y Chromosomementioning

confidence: 96%

Section: Chromosomal Mapping Of the Six Y Microsatellite Locimentioning

confidence: 99%

Section: Mapping Of the Microsatellites On The Y Chromosomementioning

confidence: 99%

Section: Mapping Of the Microsatellites On The Y Chromosomementioning

confidence: 99%

See 2 more Smart Citations

Divergent Human Y-Chromosome Microsatellite Evolution Rates

et al. 1999

View full text Add to dashboard Cite

show abstract

“…The biological characterization and evolution of alphoid DNA have been extensively investigated in human chromosomes (Earnshaw and Rothfield 1985, Earnshaw et al 1989, Tyler-Smith et al 1993, Yoda et al 1993, Rudd et al 2003, Masumoto et al 2004, Rudd and Willard 2004, Rudd et al 2006. However, because of difficulties in analyzing the highly complicated genomic constitution of centromeric regions, the distribution of alphoid DNA sequences in human chromosomes has not been established.…”

mentioning

confidence: 99%

Sensitive and Rapid Detection of Centromeric Alphoid DNA in Human Metaphase Chromosomes by PNA Fluorescence <i>In Situ</i> Hybridization and Its Application to Biological Radiation Dosimetry

Suto¹,

Hirai²,

Akiyama³

et al. 2012

CYTOLOGIA

View full text Add to dashboard Cite

Summary Centromeres of human chromosomes contain highly repeated sequences of DNA including alphoid DNA. Because of the complicated genomic organization of the centromere, the distribution of alphoid DNA in chromosomes has not been fully investigated. We conducted fluorescence in situ hybridization using a synthetic peptide nucleic acid as a sensitive probe (PNA-FISH) to detect chromosomal sites of alphoid DNA. As a result, the size variation of centromeric alphoid DNA among chromosomes was visualized with hybridization times as short as 1-2 h. In addition to the inter-chromosomal variation, we detected possible inter-individual variation in the size of alphoid DNA sites, which had been difficult to precisely analyze by conventional molecular and cytogenetic methods. We then applied this sensitive and rapid detection method to evaluate the yield of multicentric chromosomes induced in cultured human peripheral blood lymphocytes by high-dose gamma-irradiation. This PNA-FISH allows us to unequivocally determine centromeres in complexly rearranged chromosomes, confirming its usefulness in biological radiation dosimetry.

show abstract

Identification of an unusual marker chromosome by spectral karyotyping

Huang

Ning

Lamb³

et al. 1998

Am. J. Med. Genet.

View full text Add to dashboard Cite

We ascertained a newborn girl with multiple congenital anomalies including severe hypotonia, cardiovascular defects, hearing loss, central nervous system anomalies, and facial anomalies. The infant died at 12 days. Cytogenetic analysis showed a de novo supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) with a combination of chromosome specific alpha-satellite probes and an all-human centromere probe failed to show hybridization to the marker, indicating that the marker chromosome lacked detectable alpha satellite sequences. Spectral karyotyping (SKY) was performed and showed that the marker was chromosome 15 in origin. This was confirmed by FISH with a 15q specific subtelomerie probe, which showed hybridization to both ends of the marker chromosome. Based on FISH information and G-banding pattern, the marker was determined to be an inverted duplication of 15q25-qter, leading to partial tetrasomy for chromosome 15. Although the marker chromosome lacked detectable centromeric alpha-satellite sequences, it seemed to have a functional centromere as it is mitotically stable. This observation is consistent with previous studies on acentric marker chromosomes, which suggested that the DNA sequence at the breakpoint could function similarly to alpha-satellite sequences once activated through marker formation.

show abstract

Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes

Cited by 92 publications

References 0 publications

Divergent Human Y-Chromosome Microsatellite Evolution Rates

Divergent Human Y-Chromosome Microsatellite Evolution Rates

Sensitive and Rapid Detection of Centromeric Alphoid DNA in Human Metaphase Chromosomes by PNA Fluorescence <i>In Situ</i> Hybridization and Its Application to Biological Radiation Dosimetry

Identification of an unusual marker chromosome by spectral karyotyping

Contact Info

Product

Resources

About