The sequences of the human sex chromosomes

Ross, Mark T.; Tyler‐Smith, Chris

doi:10.1016/j.gde.2006.04.006

Cited by 26 publications

(11 citation statements)

References 49 publications

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“…During the 166-300 million years that the mammalian Y has been diverging from the X (Lahn and Page 1999;Veyrunes et al 2008), the Y has experienced intrachromosomal inversions (Tilford et al 2001;Skaletsky et al 2003) and deletions Repping et al 2002;Noordam and Repping 2006) leading to the loss of function of most coding regions on the Y (reviewed in Ross et al 2006). Deletions are likely the predominant cause of human sex chromosome heteromorphy, as the Y contains one-third as much DNA as the X (Skaletsky et al 2003;Ross et al 2005).…”

Section: S Imple Genetic Sex Determination (Gsd) In Which Amentioning

confidence: 99%

Molecular Cytogenetic Evidence of Rearrangements on the Y Chromosome of the Threespine Stickleback Fish

2008

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To identify the processes shaping vertebrate sex chromosomes during the early stages of their evolution, it is necessary to study systems in which genetic sex determination was recently acquired. Previous cytogenetic studies suggested that threespine stickleback fish (Gasterosteus aculeatus) do not have a heteromorphic sex chromosome pair, although recent genetic studies found evidence of an XY genetic sex-determination system. Using fluorescence in situ hybridization (FISH), we report that the threespine stickleback Y chromosome is heteromorphic and has suffered both inversions and deletion. Using the FISH data, we reconstruct the rearrangements that have led to the current physical state of the threespine stickleback Y chromosome. These data demonstrate that the threespine Y is more degenerate than previously thought, suggesting that the process of sex chromosome evolution can occur rapidly following acquisition of a sexdetermining region.

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Section: S Imple Genetic Sex Determination (Gsd) In Which Amentioning

confidence: 99%

Molecular Cytogenetic Evidence of Rearrangements on the Y Chromosome of the Threespine Stickleback Fish

2008

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“…The human X and Y have been completely sequenced over the past two years [1 ,2], enabling detailed molecular comparisons of gene content and copy number as well as repeat content and chromosome structure (see review by MT Ross, DR Bentley and C Tyler-Smith [3], this issue). The X spans 165 Mb and contains about 1000 genes.…”

Section: Introductionmentioning

confidence: 99%

How the gene content of human sex chromosomes evolved

Graves

Koina

Sankovic

2006

Current Opinion in Genetics & Development

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“…Since then, every existing X chromosome has spent two thirds of its history in females. As a consequence, given the lower mutation rates in females than in males, mutations in the X chromosome would tend to occur somewhat less frequently than in the autosomes and the Y chromosome, which explains its lower genetic diversity [19,20]. On the other hand, the effective population of the X chromosomes is three quarters of the autosomal chromosomes, and they can recombine, but only in female meioses not in male meioses.…”

Section: Discussionmentioning

confidence: 99%

Forensic efficiency of microsatellites and single nucleotide polymorphisms on the X chromosome

2007

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Polymorphisms located on the X chromosome are being increasingly used in forensic studies. However, they have not been studied as extensively as the autosomal and Y-linked polymorphisms. Therefore, we planned to study the population genetics of two sets of X-linked markers, including short-tandem repeats (STRs) and single nucleotide polymorphisms (SNPs), and particularly analyze the differences at the microgeographical level. Six X-linked STRs (DXS 9895, DXS 7132, DXS 9898, DXS 6789, GATA 172D05, and DXS 7130) and ten SNPs (rs1229078, rs1544545, rs4442270, rs1874111, rs5968332, rs1166756, rs12849634, rs5932595, rs203648, and rs611711) were studied in two population samples from Cantabria, northern Spain, a mixed coastal population and a relatively isolated small population in the Pas valley. There were statistically significant differences in allelic frequencies of the six STRs studied between both populations. On the other hand, only one out of ten SNPs studied showed between-population differences. Overall Fst values were 0.4-2.9% and 1.8-2.2% for the STRs and the SNPs, respectively. The overall power of discrimination for female samples was higher than 99.99% for both groups of markers. Therefore, these sets of X-linked STRs and SNPs seem to be potentially useful in forensic genetics, but care should be taken when interpreting results from cases that originate from small and relatively isolated populations.

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The sequences of the human sex chromosomes

Cited by 26 publications

References 49 publications

Molecular Cytogenetic Evidence of Rearrangements on the Y Chromosome of the Threespine Stickleback Fish

Molecular Cytogenetic Evidence of Rearrangements on the Y Chromosome of the Threespine Stickleback Fish

How the gene content of human sex chromosomes evolved

Forensic efficiency of microsatellites and single nucleotide polymorphisms on the X chromosome

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