Sex-biased demography modulates male harm across the genome.
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ABSTRACT:
SUBMITTER: Hitchcock TJ
PROVIDER: S-EPMC8692969 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Sex-biased demographic events ("sex-bias") involve unequal numbers of females and males. These events are typically inferred from the relative amount of X-chromosomal to autosomal genetic variation and have led to conflicting conclusions about human demographic history. Though population size changes alter the relative amount of X-chromosomal to autosomal genetic diversity even in the absence of sex-bias, this has generally not been accounted for in sex-bias estimators to date. Here, we present a novel method to identify sex-bias from genetic sequence data that models population size changes and estimates the female fraction of the effective population size during each time epoch. Compared to recent sex-bias inference methods, our approach can detect sex-bias that changes on a single population branch without requiring data from an outgroup or knowledge of divergence events. When applied to simulated data, conventional sex-bias estimators are biased by population size changes, especially recent growth or bottlenecks, while our estimator is unbiased. We next apply our method to high-coverage exome data from the 1000 Genomes Project and estimate a male bias in Yorubans (47% female) and Europeans (44%), possibly due to stronger background selection on the X chromosome than on the autosomes. Finally, we apply our method to the 1000 Genomes Project Phase 3 high-coverage Complete Genomics whole-genome data and estimate a female bias in Yorubans (63% female), Europeans (84%), Punjabis (82%), as well as Peruvians (56%), and a male bias in the Southern Han Chinese (45%). Our method additionally identifies a male-biased migration out of Africa based on data from Europeans (20% female). Our results demonstrate that modeling population size change is necessary to estimate sex-bias parameters accurately. Our approach gives insight into signatures of sex-bias in sexual species, and the demographic models it produces can serve as more accurate null models for tests of selection.
| S-EPMC6774570 | biostudies-literature
Project description:The demographic history of dogs is complex, involving multiple bottlenecks, admixture events and artificial selection. However, existing genetic studies have not explored variance in the number of reproducing males and females, and whether it has changed across evolutionary time. While male-biased mating practices, such as male-biased migration and multiple paternity, have been observed in wolves, recent breeding practices could have led to female-biased mating patterns in breed dogs. For example, breed dogs are thought to have experienced a popular sire effect, where a small number of males father many offspring with a large number of females. Here we use genetic variation data to test how widespread sex-biased mating practices in canines are during different evolutionary time points. Using whole-genome sequence data from 33 dogs and wolves, we show that patterns of diversity on the X chromosome and autosomes are consistent with a higher number of reproducing males than females over ancient evolutionary history in both dogs and wolves, suggesting that mating practices did not change during early dog domestication. By contrast, since breed formation, we found evidence for a larger number of reproducing females than males in breed dogs, consistent with the popular sire effect. Our results confirm that canine demography has been complex, with opposing sex-biased processes occurring throughout their history. The signatures observed in genetic data are consistent with documented sex-biased mating practices in both the wild and domesticated populations, suggesting that these mating practices are pervasive.
| S-EPMC6545087 | biostudies-literature
Project description:BackgroundThe origin of functional innovation is among the key questions in biology. Recently, it has been shown that new genes could arise from non-coding DNA and that such novel genes are often involved in male reproduction.ResultsWith the aim of identifying novel genes, we used the technique "generation of longer cDNA fragments from serial analysis of gene expression (SAGE) tags for gene identification (GLGI)" to extend 84 sex-biased 3'end SAGE tags that previously could not be mapped to the D. pseudoobscura transcriptome. Eleven male-biased and 33 female-biased GLGI fragments were obtained, of which 5 male-biased and 3 female-biased tags corresponded to putatively novel genes. This excess of novel genes with a male-biased gene expression pattern is consistent with previous results, which found novel genes to be primarily expressed in male reproductive tissues. 5' RACE analysis indicated that these novel transcripts are very short in length and could contain introns. Interspecies comparisons revealed that most novel transcripts show evidence for purifying selection.ConclusionOverall, our data indicate that among sex-biased genes a considerable number of novel genes (approximately 2-4%) exist in D. pseudoobscura, which could not be predicted based on D. melanogaster gene models.
| S-EPMC2443716 | biostudies-literature
Project description:BackgroundExaggerated secondary sexual traits are widespread in nature and often evolve under strong directional sexual selection. Although heavily studied from both theoretical and empirical viewpoints, we have little understanding of how sexual selection influences sex-biased gene regulation during the development of exaggerated secondary sexual phenotypes, and how these changes are reflected in genomic architecture. This is primarily due to the limited availability of representative genomes and associated tissue and sex transcriptomes to study the development of these traits. Here we present the genome and developmental transcriptomes, focused on the legs, of the water strider Microvelia longipes, a species where males exhibit strikingly long third legs compared to females, which they use as weapons.ResultsWe generated a high-quality genome assembly with 90% of the sequence captured in 13 scaffolds. The most exaggerated legs in males were particularly enriched in both sex-biased and leg-biased genes, indicating a specific signature of gene expression in association with trait exaggeration. We also found that male-biased genes showed patterns of fast evolution compared to non-biased and female-biased genes, indicative of directional or relaxed purifying selection. By contrast to male-biased genes, female-biased genes that are expressed in the third legs, but not the other legs, are over-represented in the X chromosome compared to the autosomes. An enrichment analysis for sex-biased genes along the chromosomes revealed also that they arrange in large genomic regions or in small clusters of two to four consecutive genes. The number and expression of these enriched regions were often associated with the exaggerated legs of males, suggesting a pattern of common regulation through genomic proximity in association with trait exaggeration.ConclusionOur findings indicate how directional sexual selection may drive sex-biased gene expression and genome architecture along the path to trait exaggeration and sexual dimorphism.
| S-EPMC8088084 | biostudies-literature
Project description:Juvenile sex ratios are often assumed to be equal for many species with genetic sex determination, but this has rarely been tested in fish embryos due to their small size and absence of sex-specific markers. We artificially crossed three populations of brown trout and used a recently developed genetic marker for sexing the offspring of both pure and hybrid crosses. Sex ratios (SR = proportion of males) varied widely one month after hatching ranging from 0.15 to 0.90 (mean = 0.39 ± 0.03). Families with high survival tended to produce balanced or male-biased sex ratios, but SR was significantly female-biased when survival was low, suggesting that males sustain higher mortality during development. No difference in SR was found between pure and hybrid families, but the existence of sire × dam interactions suggests that genetic incompatibility may play a role in determining sex ratios. Our findings have implications for animal breeding and conservation because skewed sex ratios will tend to reduce effective population size and bias selection estimates.
| S-EPMC5206587 | biostudies-literature
Project description:We examined fixed substitutions in the human lineage since divergence from the common ancestor with the chimpanzee, and determined what fraction are AT to GC (weak-to-strong). Substitutions that are densely clustered on the chromosomes show a remarkable excess of weak-to-strong "biased" substitutions. These unexpected biased clustered substitutions (UBCS) are common near the telomeres of all autosomes but not the sex chromosomes. Regions of extreme bias are enriched for genes. Human and chimp orthologous regions show a striking similarity in the shape and magnitude of their respective UBCS maps, suggesting a relatively stable force leads to clustered bias. The strong and stable signal near telomeres may have participated in the evolution of isochores. One exception to the UBCS pattern found in all autosomes is chromosome 2, which shows a UBCS peak midchromosome, mapping to the fusion site of two ancestral chromosomes. This provides evidence that the fusion occurred as recently as 740,000 years ago and no more than approximately 3 million years ago. No biased clustering was found in SNPs, suggesting that clusters of biased substitutions are selected from mutations. UBCS is strongly correlated with male (and not female) recombination rates, which explains the lack of UBCS signal on chromosome X. These observations support the hypothesis that biased gene conversion (BGC), specifically in the male germline, played a significant role in the evolution of the human genome.
| S-EPMC1987345 | biostudies-other
Project description:The adult sex ratio (ASR) is a crucial component of the ecological and evolutionary forces shaping the dynamics of a population. Although in many declining populations ASRs have been reported to be skewed, empirical studies exploring the demographic factors shaping ASRs are still rare. In this study of the socially monogamous and sexually dimorphic Black-tailed Godwit (Limosa limosa limosa), we aim to evaluate the sex ratio of chicks at hatch and the subsequent sex-specific survival differences occurring over 3 subsequent life stages. We found that, at hatch, the sex ratio did not deviate from parity. However, the survival of pre-fledged females was 15-30% lower than that of males and the sex bias in survival was higher in low-quality habitat. Additionally, survival of adult females was almost 5% lower than that of adult males. Because survival rates of males and females did not differ during other life-history stages, the ASR in the population was biased toward males. Because females are larger than males, food limitations during development or sex-specific differences in the duration of development may explain the lower survival of female chicks. Differences among adults are less obvious and suggest previously unknown sex-related selection pressures. Irrespective of the underlying causes, by reducing the available number of females in this socially monogamous species, a male-biased ASR is likely to contribute to the ongoing decline of the Dutch godwit population.
| S-EPMC6562303 | biostudies-literature
Project description:In amphibians, abnormal metamorph sex ratios and sexual development have almost exclusively been considered in response to synthetic compounds like pesticides or pharmaceuticals. However, endocrine-active plant chemicals (i.e. phytoestrogens) are commonly found in agricultural and urban waterways hosting frog populations with deviant sexual development. Yet the effects of these compounds on amphibian development remain predominantly unexplored. Legumes, like clover, are common in agricultural fields and urban yards and exude phytoestrogen mixtures from their roots. These root exudates serve important ecological functions and may also be a source of phytoestrogens in waterways. I show that clover root exudate produces male-biased sex ratios and accelerates male metamorphosis relative to females in low and intermediate doses of root exudate. My results indicate that root exudates are a potential source of contaminants impacting vertebrate development and that humans may be cultivating sexual abnormalities in wildlife by actively managing certain plant species.
| S-EPMC4807449 | biostudies-literature
Project description:Sex-biased demographic events can result in asymmetries in female and male effective population size that can lead to different patterns of genetic variation on chromosome X than are expected based on the patterns on the autosomes. Previous studies point to a period around the time of the dispersal of anatomically modern humans out of Africa when chromosome X experienced a significant reduction in effective population size relative to the autosomes. Here, we explore whether a sex-biased demographic history could explain these observations. We use coalescent simulations to show that a model of primarily male migration during the out-of-Africa dispersal can produce the striking patterns that are observed when comparing patterns of genetic variation on the autosomes and chromosome X. The model involves a history in which after the founder population of non-Africans lost much of its genetic diversity, subsequent mostly male gene flow from an African source brought new diversity into the population. We also explore two additional models, one of sex-biased generation time and one of a substructured population during the dispersal out of Africa with primarily female migration among demes. These latter models cannot account for the magnitude of the observed reduction in chromosome X effective population size, although it is plausible that they played a more minor role in producing the striking chromosome X/autosome patterns.
| S-EPMC2944028 | biostudies-literature
Project description:The Drosophila Y chromosome is a 40-Mb segment of mostly repetitive DNA; it harbors a handful of protein-coding genes and a disproportionate amount of satellite repeats, transposable elements, and multicopy DNA arrays. Intron retention (IR) is a type of alternative splicing (AS) event by which one or more introns remain within the mature transcript. IR recently emerged as a deliberate cellular mechanism to modulate gene expression levels and has been implicated in multiple biological processes. However, the extent of sex differences in IR and the contribution of the Y chromosome to the modulation of AS and IR rates has not been addressed. Here we showed pervasive IR in the fruit fly Drosophila melanogaster with thousands of novel IR events, hundreds of which displayed extensive sex bias. The data also revealed an unsuspected role for the Y chromosome in the modulation of AS and IR. The majority of sex-biased IR events introduced premature termination codons and the magnitude of sex bias was associated with gene expression differences between the sexes. Surprisingly, an extra Y chromosome in males (X^YY genotype) or the presence of a Y chromosome in females (X^XY genotype) significantly modulated IR and recapitulated natural differences in IR between the sexes. Our results highlight the significance of sex-biased IR in tuning sex differences and the role of the Y chromosome as a source of variable IR rates between the sexes. Modulation of splicing and IR rates across the genome represent new and unexpected outcomes of the Drosophila Y chromosome.
| S-EPMC5844322 | biostudies-literature