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      How to identify sex chromosomes and their turnover

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          Abstract

          Although sex is a fundamental component of eukaryotic reproduction, the genetic systems that control sex determination are highly variable. In many organisms the presence of sex chromosomes is associated with female or male development. Although certain groups possess stable and conserved sex chromosomes, others exhibit rapid sex chromosome evolution, including transitions between male and female heterogamety, and turnover in the chromosome pair recruited to determine sex. These turnover events have important consequences for multiple facets of evolution, as sex chromosomes are predicted to play a central role in adaptation, sexual dimorphism, and speciation. However, our understanding of the processes driving the formation and turnover of sex chromosome systems is limited, in part because we lack a complete understanding of interspecific variation in the mechanisms by which sex is determined. New bioinformatic methods are making it possible to identify and characterize sex chromosomes in a diverse array of non‐model species, rapidly filling in the numerous gaps in our knowledge of sex chromosome systems across the tree of life. In turn, this growing data set is facilitating and fueling efforts to address many of the unanswered questions in sex chromosome evolution. Here, we synthesize the available bioinformatic approaches to produce a guide for characterizing sex chromosome system and identity simultaneously across clades of organisms. Furthermore, we survey our current understanding of the processes driving sex chromosome turnover, and highlight important avenues for future research.

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          Most cited references129

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          Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.

          The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species and in plants have shed light on the current gene content of the Y chromosome, its origins and its long-term fate. Furthermore, comparative analysis of young and old Y chromosomes has given further insights into the evolutionary and molecular forces triggering Y-chromosome degeneration and into the evolutionary destiny of the Y chromosome.
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            Quake: quality-aware detection and correction of sequencing errors

            We introduce Quake, a program to detect and correct errors in DNA sequencing reads. Using a maximum likelihood approach incorporating quality values and nucleotide specific miscall rates, Quake achieves the highest accuracy on realistically simulated reads. We further demonstrate substantial improvements in de novo assembly and SNP detection after using Quake. Quake can be used for any size project, including more than one billion human reads, and is freely available as open source software from http://www.cbcb.umd.edu/software/quake.
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              Breaking RAD: an evaluation of the utility of restriction site-associated DNA sequencing for genome scans of adaptation.

              Understanding how and why populations evolve is of fundamental importance to molecular ecology. Restriction site-associated DNA sequencing (RADseq), a popular reduced representation method, has ushered in a new era of genome-scale research for assessing population structure, hybridization, demographic history, phylogeography and migration. RADseq has also been widely used to conduct genome scans to detect loci involved in adaptive divergence among natural populations. Here, we examine the capacity of those RADseq-based genome scan studies to detect loci involved in local adaptation. To understand what proportion of the genome is missed by RADseq studies, we developed a simple model using different numbers of RAD-tags, genome sizes and extents of linkage disequilibrium (length of haplotype blocks). Under the best-case modelling scenario, we found that RADseq using six- or eight-base pair cutting restriction enzymes would fail to sample many regions of the genome, especially for species with short linkage disequilibrium. We then surveyed recent studies that have used RADseq for genome scans and found that the median density of markers across these studies was 4.08 RAD-tag markers per megabase (one marker per 245 kb). The length of linkage disequilibrium for many species is one to three orders of magnitude less than density of the typical recent RADseq study. Thus, we conclude that genome scans based on RADseq data alone, while useful for studies of neutral genetic variation and genetic population structure, will likely miss many loci under selection in studies of local adaptation.

                Author and article information

                Contributors
                d.h.palmer@sheffield.ac.uk
                Journal
                Mol Ecol
                Mol. Ecol
                10.1111/(ISSN)1365-294X
                MEC
                Molecular Ecology
                John Wiley and Sons Inc. (Hoboken )
                0962-1083
                1365-294X
                10 October 2019
                November 2019
                : 28
                : 21 ( doiID: 10.1111/mec.v28.21 )
                : 4709-4724
                Affiliations
                [ 1 ] Department of Animal and Plant Sciences University of Sheffield Sheffield UK
                [ 2 ] Department of Genetics, Evolution and Environment University College London London UK
                Author notes
                [*] [* ] Correspondence

                Daniela H. Palmer, Department of Animal and Plant Sciences, University of Sheffield, Sheffield, UK.

                Email: d.h.palmer@ 123456sheffield.ac.uk

                Author information
                https://orcid.org/0000-0003-1242-9632
                https://orcid.org/0000-0003-0198-0242
                https://orcid.org/0000-0003-2479-5250
                Article
                MEC15245
                10.1111/mec.15245
                6900093
                31538682
                7cb3171c-e567-4852-bbd5-62cf9d1ed31d
                © 2019 The Authors. Molecular Ecology published by John Wiley & Sons Ltd

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                : 01 July 2019
                : 05 September 2019
                : 13 September 2019
                Page count
                Figures: 2, Tables: 0, Pages: 16, Words: 13850
                Funding
                Funded by: Marie Curie Actions
                Award ID: 655392
                Funded by: Directorate for Biological Sciences , open-funder-registry 10.13039/100000076;
                Award ID: 1812164
                Funded by: Natural Environment Research Council , open-funder-registry 10.13039/501100000270;
                Award ID: NE/N013948/1
                Categories
                Invited Reviews and Syntheses
                Invited Reviews and Syntheses
                Custom metadata
                2.0
                November 2019
                Converter:WILEY_ML3GV2_TO_JATSPMC version:5.7.2 mode:remove_FC converted:05.12.2019

                Ecology
                bioinformatics,next‐generation sequencing,sex chromosome turnover,sex chromosomes
                Ecology
                bioinformatics, next‐generation sequencing, sex chromosome turnover, sex chromosomes

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