Y chromosome copy number variation and its effects on fertility and other health factors: a review

Rogers, Marc J.

doi:10.21037/tau.2020.04.06

Cited by 12 publications

(7 citation statements)

References 99 publications

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“…Indeed, W chromosomes of birds have ampliconic genes and are rich in tandem repeats ( Backström et al, 2005 ; Komissarov et al, 2018 ). However, there seem to be fewer ampliconic gene families on bird W chromosomes compared to Y chromosomes in other animals, suggesting that sexual selection and intragenomic conflict in spermatogenesis are important contributors to Y-linked gene family evolution ( Bachtrog, 2020 ; Rogers, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Unique structure and positive selection promote the rapid divergence of Drosophila Y chromosomes

Chang

Gregory

Gordon

et al. 2022

eLife

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Y chromosomes across diverse species convergently evolve a gene-poor, heterochromatic organization enriched for duplicated genes, LTR retrotransposons, and satellite DNA. Sexual antagonism and a loss of recombination play major roles in the degeneration of young Y chromosomes. However, the processes shaping the evolution of mature, already degenerated Y chromosomes are less well-understood. Because Y chromosomes evolve rapidly, comparisons between closely related species are particularly useful. We generated de novo long read assemblies complemented with cytological validation to reveal Y chromosome organization in three closely related species of the Drosophila simulans complex, which diverged only 250,000 years ago and share >98% sequence identity. We find these Y chromosomes are divergent in their organization and repetitive DNA composition and discover new Y-linked gene families whose evolution is driven by both positive selection and gene conversion. These Y chromosomes are also enriched for large deletions, suggesting that the repair of double-strand breaks on Y chromosomes may be biased toward microhomology-mediated end joining over canonical non-homologous end-joining. We propose that this repair mechanism contributes to the convergent evolution of Y chromosome organization across organisms.

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Section: Discussionmentioning

confidence: 99%

Unique structure and positive selection promote the rapid divergence of Drosophila Y chromosomes

Chang

Gregory

Gordon

et al. 2022

eLife

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“…The presentation can range from azoospermia to oligozoospermia and histologically manifest as Sertoli cell-only syndrome to varying stages of spermatid maturational arrest ( 12 ). The azoospermia factor genes ( AZFa, AZFb and AZFc ) located along Yq are included in the deleted region and it is therefore likely our patient will be infertile ( 12 , 13 ).…”

Section: Discussionmentioning

confidence: 99%

“…Genes located in the AZF region, found on the long arm of the Yq chromosome, are needed for spermatogenesis. Loss of AZF locus is associated with infertility in males ( 12 , 13 ).…”

Section: Introductionmentioning

confidence: 99%

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity

Suntharesan

Apperley

Senniappan

2022

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. 45,X males can present with short stature and Turner syndrome phenotype due to haploinsufficiency of genes which are normally expressed in both X and Y chromosomes. The presence of the sex-determining region Y (SRY) gene leads to the differentiation of bipotential gonads to testis. Most individuals go through puberty normally, but some may need pubertal induction for delayed puberty. Rarely some can have a pubertal arrest. The risk of gonadoblastoma is minimal in these individuals due to functioning testicular tissue. The azoospermia factor (AZF) region is found on the long arm of the Yq chromosome and is needed for spermatogenesis. In a 45,X male with unbalanced translocation of Y chromosome, spermatogenesis can be affected due to the lack of AZF leading to Sertoli cell-only syndrome. This will have an implication on fertility in adult life. We present a 14-year-old boy with developmental delay, learning difficulties and subtle dysmorphic features who was diagnosed with 45,X,der(2)t(Y:2)(?:p25). Fluorescence in situ hybridisation analysis revealed translocation of SRY (Yp11.3) to the terminal part of the short arm of chromosome 2 resulting in the deletion of most of the Y chromosome (Yp11.2-q12) and part of chromosome 2(2p25.3). This is the first case where SRY translocation to chromosome 2 presents with the above clinical presentation. Learning points 45,X karyotype is rare in male. It may occur due to SRY translocation or an insertion to X/autosome. SRY gene translocation to chromosome 2 has been not reported in the literature. Clinical presentation can be varied due to degree of loss of chromosomal material. Due to loss of AZF region found on the long arm of the Yq, spermatogenesis can be affected. Loss of 2p25 leads to learning difficulty and obesity.

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“…The copy number of these repetitive sequences is 11–76, and there are large differences between different Y haplogroups ( Mathias et al, 1994 ). No copy number outside this range is found in the current population, which may have a certain impact on individual survival or key developmental processes ( Rogers, 2021 ). Abnormal translocation between the homologous genes PRKX and PRKY can also lead to the loss of TSPY ( Nakashima et al, 2013 ).…”

Section: Repetitive Sequences Of the Y Chromosomementioning

confidence: 99%

Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility

Xu¹,

Pang

2022

Front. Cell Dev. Biol.

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The male-specific Y chromosome, which is well known for its diverse and complex repetitive sequences, has different sizes, genome structures, contents and evolutionary trajectories from other chromosomes and is of great significance for testis development and function. The large number of repetitive sequences and palindrome structure of the Y chromosome play an important role in maintaining the stability of male sex determining genes, although they can also cause non-allelic homologous recombination within the chromosome. Deletion of certain Y chromosome sequences will lead to spermatogenesis disorders and male infertility. And Y chromosome genes are also involved in the occurrence of reproductive system cancers and can increase the susceptibility of other tumors. In addition, the Y chromosome has very special value in the personal identification and parentage testing of male-related cases in forensic medicine because of its unique paternal genetic characteristics. In view of the extremely high frequency and complexity of gene rearrangements and the limitations of sequencing technology, the analysis of Y chromosome sequences and the study of Y-gene function still have many unsolved problems. This article will introduce the structure and repetitive sequence of the Y chromosome, summarize the correlation between Y chromosome various sequence deletions and male infertility for understanding the repetitive sequence of Y chromosome more systematically, in order to provide research motivation for further explore of the molecules mechanism of Y-deletion and male infertility and theoretical foundations for the transformation of basic research into applications in clinical medicine and forensic medicine.

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Y chromosome copy number variation and its effects on fertility and other health factors: a review

Cited by 12 publications

References 99 publications

Unique structure and positive selection promote the rapid divergence of Drosophila Y chromosomes

Unique structure and positive selection promote the rapid divergence of Drosophila Y chromosomes

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity

Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility

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