Y chromosome TSPY copy numbers and semen quality

Nickkholgh, Bita; Noordam, Michiel J.; Hovingh, Suzanne E.; Pelt, Ans M.M. van; Veen, Fulco van der; Repping, Sjoerd

doi:10.1016/j.fertnstert.2009.09.051

Cited by 38 publications

(34 citation statements)

References 17 publications

(18 reference statements)

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“…By sequencing the testis transcriptome, we can build an improved gene catalog and detect novel transcripts. By demonstrating how ddPCR can be used to measure the size of ampliconic gene families, we can enable future studies of male fertility (Nickkholgh et al 2010). This is particularly important because of an association of the sizes of some ampliconic families with fertility in men (Elliott 2000;de Vries et al 2002;Writzl et al 2005;Nickkholgh et al 2010).…”

Section: Discussionmentioning

confidence: 99%

A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y

et al. 2016

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The mammalian Y Chromosome sequence, critical for studying male fertility and dispersal, is enriched in repeats and palindromes, and thus, is the most difficult component of the genome to assemble. Previously, expensive and labor-intensive BAC-based techniques were used to sequence the Y for a handful of mammalian species. Here, we present a much faster and more affordable strategy for sequencing and assembling mammalian Y Chromosomes of sufficient quality for most comparative genomics analyses and for conservation genetics applications. The strategy combines flow sorting, short-and long-read genome and transcriptome sequencing, and droplet digital PCR with novel and existing computational methods. It can be used to reconstruct sex chromosomes in a heterogametic sex of any species. We applied our strategy to produce a draft of the gorilla Y sequence. The resulting assembly allowed us to refine gene content, evaluate copy number of ampliconic gene families, locate species-specific palindromes, examine the repetitive element content, and produce sequence alignments with human and chimpanzee Y Chromosomes. Our results inform the evolution of the hominine (human, chimpanzee, and gorilla) Y Chromosomes. Surprisingly, we found the gorilla Y Chromosome to be similar to the human Y Chromosome, but not to the chimpanzee Y Chromosome. Moreover, we have utilized the assembled gorilla Y Chromosome sequence to design genetic markers for studying the male-specific dispersal of this endangered species.

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Section: Discussionmentioning

confidence: 99%

A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y

et al. 2016

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“…2). Although copy number varies among individuals within a range of 11 to 76 (26,50,51), the majority of men (about 65 % of the Italian population) remain within a restricted interval (21 to 35 copies) (47). The evolutionary conservation of multiple TSPY1 copies on the Y chromosome of other mammals as well as the above mentioned limited variation in copy number in humans suggest that a minimum TSPY1 copy number is likely to be maintained through selection (52).…”

Section: Tspy1 Arraymentioning

confidence: 99%

“…The evolutionary conservation of multiple TSPY1 copies on the Y chromosome of other mammals as well as the above mentioned limited variation in copy number in humans suggest that a minimum TSPY1 copy number is likely to be maintained through selection (52). Only few studies have focused on the eventual TSPY1 influence on spermatogenesis and frustratingly they all reached three different conclusions, probably due to study design biases (26,50,51). Indeed, crucial for a reliable analysis is the TSPY1 copy number variation susceptibility to stratification biases.…”

Section: Tspy1 Arraymentioning

confidence: 99%

The Y chromosome-linked copy number variations and male fertility

Krausz

Chianese

Giachini

et al. 2011

J Endocrinol Invest

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“…Giachini et al 34 , found that the TSPY gene copy number affects spermatogenesis and that low copy number is a factor contributing to male infertility. On the other hand, Nickkholgh et al 35 argue that there is no correlation between impaired spermatogenesis and the TSPY gene copy number.…”

Section: Discussionmentioning

confidence: 99%

Sequence Recombination in Exon 1 of the Tspy Gene in Men With Impaired Fertility

Svačinová¹,

Vodička²,

Vrtěl³

et al. 2011

BIOMED PAP

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Aim. The aim of this study was to evaluate TSPY (testis specific protein on the Y chromosome) gene and 5'UTR (UnTranslated Region) polymorphisms in men with impaired fertility compared to fertile controls.Methods. We analyzed 72 infertile men and 31 fertile controls usingconventional sequencing analysis to find crucial SNPs (single nucleotide polymorphism) and other changes.Results. The most remarkable changes were found in the 1 st exon only. In one half of the both infertile men and fertile controls, the most frequent finding was 26 SNPs with a similar pattern. In the other half we found highly relevant changes, generating a stop codon in the first third of exon 1. Early termination cut down the protein by 78.5%. This kind of change was not found in the fertile controls. No correlation was found between the spermiogram and the changes leading to the stop codon. The distribution of men with deletions, insertion and higher gene copy number was not statistically different.Conclusion. The changes found in exon 1 in infertile men could fundamentally affect the process of spermatogenesis. These findings could significantly enhance our understanding of the molecular-genetic causes of male infertility.

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Y chromosome TSPY copy numbers and semen quality

Cited by 38 publications

References 17 publications

A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y

A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y

The Y chromosome-linked copy number variations and male fertility

Sequence Recombination in Exon 1 of the Tspy Gene in Men With Impaired Fertility

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