scholarly journals Selective single molecule sequencing and assembly of a human Y chromosome of African origin

2018 ◽  
Author(s):  
Lukas F.K. Kuderna ◽  
Esther Lizano ◽  
Eva Julià ◽  
Jessica Gomez-Garrido ◽  
Aitor Serres-Armero ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Single Molecule ◽  
Genomic Analysis ◽  
European Ancestry ◽  
African Origin ◽  
Repeat Content ◽  
Y Chromosomes ◽  
Reference Quality ◽  
Novel Strategy ◽  
Human Y Chromosome

Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic regions1, only a handful of species have their Y chromosome properly characterized. To date, just a single human reference quality Y chromosome, of European ancestry, is available due to a lack of accessible methodology2–5. To facilitate the assembly of such complicated genomic territory, we developed a novel strategy to sequence native, unamplified flow sorted DNA on a MinION nanopore sequencing device. Our approach yields a highly continuous and complete assembly of the first human Y chromosome of African origin. It constitutes a significant improvement over comparable previous methods, increasing continuity by more than 800%6, thus allowing a chromosome scale analysis of human Y chromosomes. Sequencing native DNA also allows to take advantage of the nanopore signal data to detect epigenetic modifications in situ7. This approach is in theory generalizable to any species simplifying the assembly of extremely large and repetitive genomes.

scholarly journals Structural changes following the reversal of a Y Chromosome to an autosome in Drosophila pseudoobscura

2016 ◽  
Author(s):  
Ching-Ho Chang ◽  
Amanda M. Larracuente
Keyword(s):  
Y Chromosome ◽  
Single Molecule ◽  
Sex Chromosomes ◽  
Structural Changes ◽  
Drosophila Pseudoobscura ◽  
X Chromosomes ◽  
Repeat Content ◽  
Y Chromosomes ◽  
Rapid Sequence ◽  
Compact Size

AbstractRobertsonian translocations resulting in fusions between sex chromosomes and autosomes shape karyotype evolution in animals by creating new sex chromosomes from autosomes. These translocations can also reverse sex chromosomes back into autosomes, which is especially intriguing given that autosomes and sex chromosomes differ in gene regulation and chromatin environment. While researchers are beginning to understand X chromosomes reversals to autosomes at a genomic level, it is difficult to study reversals of Y chromosomes because of their rapid sequence turnover and high repeat content. To gain insight into the genomic events following a Y chromosome reversal, we investigated an autosome-Y translocation in a well-studied and tractable organism, Drosophila pseudoobscura. About 10-15 Mya, the ancestral Y chromosome fused to a small autosome (the dot chromosome) in an ancestor of D. pseudoobscura. We used single molecule real-time sequencing reads to assemble the genic part of the D. pseudoobscura dot chromosome, including this Y-to-dot translocation. We find that the intervening sequence between the ancestral Y and the rest of the dot chromosome is only ~78 Kb and has a low repeat density, suggesting that the centromere now falls outside, rather than between, the fused chromosomes. The Y-to-dot region is 100 times smaller than the D. melanogaster Y chromosome, owing to repeat landscape changes. Previous studies suggest that recurrent selective sweeps favoring shorter introns helped to shrink the Y-to-dot following the translocation. Our results suggest that genetic drift and a small ancestral Y chromosome may also help explain the compact size of the Y-to-dot translocation.

scholarly journals Selective single molecule sequencing and assembly of a human Y chromosome of African origin

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Lukas F. K. Kuderna ◽  
Esther Lizano ◽  
Eva Julià ◽  
Jessica Gomez-Garrido ◽  
Aitor Serres-Armero ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Single Molecule ◽  
African Origin ◽  
Single Molecule Sequencing ◽  
Human Y Chromosome

The degenerate Y chromosome – can conversion save it?

2004 ◽  
Vol 16 (5) ◽  
pp. 527 ◽  
Author(s):  
Jennifer A. Marshall Graves
Keyword(s):  
Gene Conversion ◽  
Y Chromosome ◽  
Genetic Drift ◽  
Sex Chromosome ◽  
Chromosome Differentiation ◽  
Y Chromosomes ◽  
Speed Up ◽  
Selection For ◽  
Human Y Chromosome

The human Y chromosome is running out of time. In the last 300 million years, it has lost 1393 of its original 1438 genes, and at this rate it will lose the last 45 in a mere 10 million years. But there has been a proposal that perhaps rescue is at hand in the form of recently discovered gene conversion within palindromes. However, I argue here that although conversion will increase the frequency of variation of the Y (particularly amplification) between Y chromosomes in a population, it will not lead to a drive towards a more functional Y. The forces of evolution have made the Y a genetically isolated, non-recombining entity, vulnerable to genetic drift and selection for favourable new variants sharing the Y with damaging mutations. Perhaps it will even speed up the decline of the Y chromosome and the onset of a new round of sex-chromosome differentiation. The struggle to preserve males may perhaps lead to hominid speciation.

scholarly journals Toxic Y chromosome: Increased repeat expression and age-associated heterochromatin loss in male Drosophila with a young Y chromosome

PLoS Genetics ◽  
2021 ◽  
Vol 17 (4) ◽  
pp. e1009438
Author(s):  
Alison H. Nguyen ◽  
Doris Bachtrog
Keyword(s):  
Y Chromosome ◽  
Sex Chromosomes ◽  
Young Male ◽  
Heterochromatin Formation ◽  
Young Males ◽  
Repeat Content ◽  
Y Chromosomes ◽  
Active Transcription ◽  
Heterogametic Sex ◽  
Effects Of Aging

Sex-specific differences in lifespan are prevalent across the tree of life and influenced by heteromorphic sex chromosomes. In species with XY sex chromosomes, females often outlive males. Males and females can differ in their overall repeat content due to the repetitive Y chromosome, and repeats on the Y might lower survival of the heterogametic sex (toxic Y effect). Here, we take advantage of the well-assembled young Y chromosome of Drosophila miranda to study the sex-specific dynamics of chromatin structure and repeat expression during aging in male and female flies. Male D. miranda have about twice as much repetitive DNA compared to females, and live shorter than females. Heterochromatin is crucial for silencing of repetitive elements, yet old D. miranda flies lose H3K9me3 modifications in their pericentromere, with heterochromatin loss being more severe during aging in males than females. Satellite DNA becomes de-repressed more rapidly in old vs. young male flies relative to females. In contrast to what is observed in D. melanogaster, we find that transposable elements (TEs) are expressed at higher levels in male D. miranda throughout their life. We show that epigenetic silencing via heterochromatin formation is ineffective on the TE-rich neo-Y chromosome, presumably due to active transcription of a large number of neo-Y linked genes, resulting in up-regulation of Y-linked TEs already in young males. This is consistent with an interaction between the evolutionary age of the Y chromosome and the genomic effects of aging. Our data support growing evidence that “toxic Y chromosomes” can diminish male fitness and a reduction in heterochromatin can contribute to sex-specific aging.

scholarly journals The Red Fox Y-Chromosome in Comparative Context

Genes ◽  
2019 ◽  
Vol 10 (6) ◽  
pp. 409 ◽  
Author(s):  
Halie M. Rando ◽  
William H. Wadlington ◽  
Jennifer L. Johnson ◽  
Jeremy T. Stutchman ◽  
Lyudmila N. Trut ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Canis Lupus ◽  
Related Species ◽  
Red Fox ◽  
Draft Genome ◽  
Canis Lupus Familiaris ◽  
Short Read ◽  
Repeat Content ◽  
Y Chromosomes ◽  
Chromosome Sequence

While the number of mammalian genome assemblies has proliferated, Y-chromosome assemblies have lagged behind. This discrepancy is caused by biological features of the Y-chromosome, such as its high repeat content, that present challenges to assembly with short-read, next-generation sequencing technologies. Partial Y-chromosome assemblies have been developed for the cat (Felis catus), dog (Canis lupus familiaris), and grey wolf (Canis lupus lupus), providing the opportunity to examine the red fox (Vulpes vulpes) Y-chromosome in the context of closely related species. Here we present a data-driven approach to identifying Y-chromosome sequence among the scaffolds that comprise the short-read assembled red fox genome. First, scaffolds containing genes found on the Y-chromosomes of cats, dogs, and wolves were identified. Next, analysis of the resequenced genomes of 15 male and 15 female foxes revealed scaffolds containing male-specific k-mers and patterns of inter-sex copy number variation consistent with the heterogametic chromosome. Analyzing variation across these two metrics revealed 171 scaffolds containing 3.37 Mbp of putative Y-chromosome sequence. The gene content of these scaffolds is consistent overall with that of the Y-chromosome in other carnivore species, though the red fox Y-chromosome carries more copies of BCORY2 and UBE1Y than has been reported in related species and fewer copies of SRY than in other canids. The assignment of these scaffolds to the Y-chromosome serves to further characterize the content of the red fox draft genome while providing resources for future analyses of canid Y-chromosome evolution.

Mapping the Y chromosome

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 39-39
Author(s):  
P. N. Goodfellow
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
X Chromosome ◽  
Dna Probes ◽  
Genetic Maps ◽  
Variable Amount ◽  
Regional Localization ◽  
Y Chromosomes ◽  
Xx Males ◽  
Human Y Chromosome

DNA probes isolated from the human Y chromosome have been used to resolve two fundamental problems concerning the biology of sex determination in man. Coincidentally, resolution of these problems has generated genetic maps of the short arm of the human Y chromosome and has allowed the regional localization of TDF. The first problem to be solved was the origin of XX males (de la Chapelle, this symposium): the majority of XX males are caused by a telomeric exchange between the X and Y chromosomes that results in TDF and a variable amount of Y-derived material being transferred to the X chromosome. The differing amounts of Y-derived material present in XX males has been used as the basis of a ‘deletion’ map of the Y chromosome (Müller; Ferguson-Smith & Affara; this symposium).

Using Ancestry-Informative SNPs to Quantify Introgression of European Alleles into North American Red Foxes

2019 ◽  
Vol 110 (7) ◽  
pp. 782-792 ◽  
Author(s):  
Yi Hung Kuo ◽  
Stevi L Vanderzwan ◽  
Adrienne E Kasprowicz ◽  
Benjamin N Sacks
Keyword(s):  
United States ◽  
Y Chromosome ◽  
X Chromosome ◽  
Atlantic Coastal Plain ◽  
European Ancestry ◽  
Eastern United States ◽  
Red Foxes ◽  
Mt Dna ◽  
Chromosome Markers ◽  
Y Chromosomes

Abstract A recent study demonstrated that British red foxes introduced to the mid-Atlantic coastal plain (ACP) of the eastern United States during the late 18th century successfully interbred with indigenous American red foxes despite half a million year’s divergence. However, a large disparity in frequency of European mitochondria (27%) versus Y chromosomes (1%) left unclear the magnitude of genetic exchange. We sought to quantify genomic introgression using 35 autosomal and 5 X-chromosome ancestry-informative markers (AIMs) in conjunction with diagnostic Y chromosome single nucleotide polymorphism (Y-SNP) markers to characterize the modern state of red foxes in the eastern United States and to gain insight into the potential role of reproductive barriers. European admixture was highest in the ACP and apparently restricted to the central eastern United States. We estimated only slightly (and nonsignificantly) European ancestry in autosomal than X-chromosome markers. European ancestry from autosomal and X-chromosome markers (36.4%) was higher than the corresponding mitochondrial (mt) DNA estimate (26.4%) in the ACP. Only 1 of 124 males (<1%) in the ACP had European Y chromosomes, which was similar to the neighboring regions, in which 2 of 99 (2%) males carried a European Y chromosome (the same haplotype). Although we could not rule out drift as the cause of low European Y-chromosome frequency, results were also consistent with F1 male infertility. In the future, more extensive genomic sequencing will enable a more thorough investigation of possible barrier genes on the X chromosome as well as throughout the genome.

scholarly journals Radical remodeling of the Y chromosome in a recent radiation of malaria mosquitoes

2016 ◽  
Vol 113 (15) ◽  
pp. E2114-E2123 ◽  
Author(s):  
Andrew Brantley Hall ◽  
Philippos-Aris Papathanos ◽  
Atashi Sharma ◽  
Changde Cheng ◽  
Omar S. Akbari ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Single Molecule ◽  
Developmental Stages ◽  
Mosquito Control ◽  
Control Strategies ◽  
Sequence Similarity ◽  
Rapid Evolution ◽  
Model Organisms ◽  
Malaria Vectors ◽  
Y Chromosomes

Y chromosomes control essential male functions in many species, including sex determination and fertility. However, because of obstacles posed by repeat-rich heterochromatin, knowledge of Y chromosome sequences is limited to a handful of model organisms, constraining our understanding of Y biology across the tree of life. Here, we leverage long single-molecule sequencing to determine the content and structure of the nonrecombining Y chromosome of the primary African malaria mosquito, Anopheles gambiae. We find that the An. gambiae Y consists almost entirely of a few massively amplified, tandemly arrayed repeats, some of which can recombine with similar repeats on the X chromosome. Sex-specific genome resequencing in a recent species radiation, the An. gambiae complex, revealed rapid sequence turnover within An. gambiae and among species. Exploiting 52 sex-specific An. gambiae RNA-Seq datasets representing all developmental stages, we identified a small repertoire of Y-linked genes that lack X gametologs and are not Y-linked in any other species except An. gambiae, with the notable exception of YG2, a candidate male-determining gene. YG2 is the only gene conserved and exclusive to the Y in all species examined, yet sequence similarity to YG2 is not detectable in the genome of a more distant mosquito relative, suggesting rapid evolution of Y chromosome genes in this highly dynamic genus of malaria vectors. The extensive characterization of the An. gambiae Y provides a long-awaited foundation for studying male mosquito biology, and will inform novel mosquito control strategies based on the manipulation of Y chromosomes.

scholarly journals Toxic Y chromosome: increased repeat expression and age-associated heterochromatin loss in male Drosophila with a young Y chromosome

2020 ◽  
Author(s):  
Alison H. Nguyen ◽  
Doris Bachtrog
Keyword(s):  
Y Chromosome ◽  
Sex Chromosomes ◽  
Young Male ◽  
Heterochromatin Formation ◽  
Young Males ◽  
Repeat Content ◽  
Y Chromosomes ◽  
Heteromorphic Sex Chromosomes ◽  
Heterogametic Sex ◽  
Effects Of Aging

Sex‐specific differences in lifespan are prevalent across the tree of life and influenced by heteromorphic sex chromosomes. In species with XY sex chromosomes, females often outlive males. Males and females can differ in their overall repeat content due to the repetitive Y chromosome, and repeats on the Y might lower survival of the heterogametic sex (toxic Y effect). Here, we take advantage of the well‐assembled young Y chromosome of Drosophila miranda to study the sex‐specific dynamics of chromatin structure and repeat expression during aging in male and female flies. Male D. miranda have about twice as much repetitive DNA compared to females, and live shorter than females. Heterochromatin is crucial for silencing of repetitive elements, yet old D. miranda flies lose H3K9me3 modifications in their pericentromere, with heterochromatin loss being more severe during aging in males than females. Satellite DNA becomes de‐repressed more rapidly in old vs. young male flies relative to females. In contrast to what is observed in D. melanogaster, we find that transposable elements (TEs) are expressed at higher levels in male D. miranda throughout their life. We show that epigenetic silencing via heterochromatin formation is ineffective on the large TE‐ rich neo‐Y chromosome, resulting in up‐regulation of Y‐linked TEs already in young males. This is consistent with an interaction between the age of the Y chromosome and the genomic effects of aging. Our data support growing evidence that “toxic Y chromosomes” can diminish male fitness and a reduction in heterochromatin can contribute to sex‐specific aging.

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