Journal ArticleDOI
Evolution on the X chromosome: unusual patterns and processes
TLDR
A better understanding of these patterns should provide valuable information on the evolution of genes located on the X chromosome and suggest solutions to more general problems in molecular evolution, such as detecting selection and estimating mutational effects on fitness.Abstract:
Although the X chromosome is usually similar to the autosomes in size and cytogenetic appearance, theoretical models predict that its hemizygosity in males may cause unusual patterns of evolution. The sequencing of several genomes has indeed revealed differences between the X chromosome and the autosomes in the rates of gene divergence, patterns of gene expression and rates of gene movement between chromosomes. A better understanding of these patterns should provide valuable information on the evolution of genes located on the X chromosome. It could also suggest solutions to more general problems in molecular evolution, such as detecting selection and estimating mutational effects on fitness.read more
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Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek,Konrad J. Karczewski,Konrad J. Karczewski,Eric Vallabh Minikel,Eric Vallabh Minikel,Kaitlin E. Samocha,Eric Banks,Timothy Fennell,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,James S. Ware,Andrew J. Hill,Andrew J. Hill,Andrew J. Hill,Beryl B. Cummings,Beryl B. Cummings,Taru Tukiainen,Taru Tukiainen,Daniel P. Birnbaum,Jack A. Kosmicki,Laramie E. Duncan,Laramie E. Duncan,Karol Estrada,Karol Estrada,Fengmei Zhao,Fengmei Zhao,James Zou,Emma Pierce-Hoffman,Emma Pierce-Hoffman,Joanne Berghout,David Neil Cooper,Nicole A. Deflaux,Mark A. DePristo,Ron Do,Jason Flannick,Jason Flannick,Menachem Fromer,Laura D. Gauthier,Jackie Goldstein,Jackie Goldstein,Namrata Gupta,Daniel P. Howrigan,Daniel P. Howrigan,Adam Kiezun,Mitja I. Kurki,Mitja I. Kurki,Ami Levy Moonshine,Pradeep Natarajan,Lorena Orozco,Gina M. Peloso,Gina M. Peloso,Ryan Poplin,Manuel A. Rivas,Valentin Ruano-Rubio,Samuel A. Rose,Douglas M. Ruderfer,Khalid Shakir,Peter D. Stenson,Christine Stevens,Brett Thomas,Brett Thomas,Grace Tiao,María Teresa Tusié-Luna,Ben Weisburd,Hong-Hee Won,Dongmei Yu,David Altshuler,David Altshuler,Diego Ardissino,Michael Boehnke,John Danesh,Stacey Donnelly,Roberto Elosua,Jose C. Florez,Jose C. Florez,Stacey Gabriel,Gad Getz,Gad Getz,Stephen J. Glatt,Christina M. Hultman,Sekar Kathiresan,Markku Laakso,Steven A. McCarroll,Steven A. McCarroll,Mark I. McCarthy,Mark I. McCarthy,Dermot P.B. McGovern,Ruth McPherson,Benjamin M. Neale,Benjamin M. Neale,Aarno Palotie,Shaun Purcell,Danish Saleheen,Jeremiah M. Scharf,Pamela Sklar,Patrick F. Sullivan,Patrick F. Sullivan,Jaakko Tuomilehto,Ming T. Tsuang,Hugh Watkins,Hugh Watkins,James G. Wilson,Mark J. Daly,Mark J. Daly,Daniel G. MacArthur,Daniel G. MacArthur +106 more
TL;DR: The aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC) provides direct evidence for the presence of widespread mutational recurrence.
Posted ContentDOI
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek,Konrad J. Karczewski,Eric Vallabh Minikel,Kaitlin E. Samocha,Eric Banks,Timothy Fennell,Anne H. O’Donnell-Luria,James S. Ware,Andrew J. Hill,Beryl B. Cummings,Taru Tukiainen,Daniel P. Birnbaum,Jack A. Kosmicki,Laramie E. Duncan,Karol Estrada,Fengmei Zhao,James Zou,Emma Pierce-Hoffman,David Neil Cooper,Mark A. DePristo,Ron Do,Jason Flannick,Menachem Fromer,Laura D. Gauthier,Jackie Goldstein,Namrata Gupta,Daniel P. Howrigan,Adam Kiezun,Mitja I. Kurki,Ami Levy Moonshine,Pradeep Natarajan,Lorena Orozco,Gina M. Peloso,Ryan Poplin,Manuel A. Rivas,Valentin Ruano-Rubio,Douglas M. Ruderfer,Khalid Shakir,Peter D. Stenson,Christine Stevens,Brett Thomas,Grace Tiao,María Teresa Tusié-Luna,Ben Weisburd,Hong-Hee Won,Dongmei Yu,David Altshuler,Diego Ardissino,Michael Boehnke,John Danesh,Roberto Elosua,Jose C. Florez,Stacey Gabriel,Gad Getz,Christina M. Hultman,Sekar Kathiresan,Markku Laakso,Steven A. McCarroll,Mark I. McCarthy,Dermot P.B. McGovern,Ruth McPherson,Benjamin M. Neale,Aarno Palotie,Shaun Purcell,Danish Saleheen,Jeremiah M. Scharf,Pamela Sklar,Patrick F. Sullivan,Jaakko Tuomilehto,Hugh Watkins,James G. Wilson,Mark J. Daly,Daniel G. MacArthur +72 more
TL;DR: The aggregation and analysis of high-quality exome (protein-coding region) sequence data for 60,706 individuals of diverse ethnicities generated as part of the Exome Aggregation Consortium (ExAC) provides direct evidence for the presence of widespread mutational recurrence.
Journal ArticleDOI
Effective population size and patterns of molecular evolution and variation
TL;DR: The properties of Ne are reviewed in a variety of different situations of biological interest, and advances in genomic techniques are giving new insights into how selection shapes Ne.
Journal ArticleDOI
Intralocus sexual conflict.
TL;DR: Outstanding questions about the causes and consequences of intralocus sexual conflict at the genomic level are highlighted, and a broader appraisal that also takes account of its potential to drive adaptive evolution and speciation is urged.
Journal ArticleDOI
Insights into hominid evolution from the gorilla genome sequence
Aylwyn Scally,Julien Y. Dutheil,LaDeana W. Hillier,Gregory E. Jordan,Ian Goodhead,Javier Herrero,Asger Hobolth,Tuuli Lappalainen,Thomas Mailund,Tomas Marques-Bonet,Tomas Marques-Bonet,Tomas Marques-Bonet,Shane A. McCarthy,Stephen H. Montgomery,Petra C. Schwalie,Y. Amy Tang,Michelle C Ward,Yali Xue,Bryndis Yngvadottir,Can Alkan,Lars Nørvang Andersen,Qasim Ayub,Edward V. Ball,Kathryn Beal,Brenda J. Bradley,Brenda J. Bradley,Yuan Chen,Chris Clee,Stephen Fitzgerald,Tina Graves,Yong Gu,Paul Heath,Andreas Heger,Emre Karakoc,Anja Kolb-Kokocinski,Gavin K. Laird,Gerton Lunter,Stephen Meader,Matthew Mort,James C. Mullikin,Kasper Munch,Timothy D. O’Connor,Andrew David Phillips,Javier Prado-Martinez,Anthony Rogers,Saba Sajjadian,Dominic Schmidt,Katy Shaw,Jared T. Simpson,Peter D. Stenson,Daniel J. Turner,Linda Vigilant,Albert J. Vilella,Weldon Whitener,Baoli Zhu,David Neil Cooper,Pieter J. de Jong,Emmanouil T. Dermitzakis,Evan E. Eichler,Paul Flicek,Nick Goldman,Nicholas I. Mundy,Zemin Ning,Duncan T. Odom,Duncan T. Odom,Chris P. Ponting,Michael A. Quail,Oliver A. Ryder,Stephen M. J. Searle,Wesley C. Warren,Richard K. Wilson,Mikkel H. Schierup,Jane Rogers,Chris Tyler-Smith,Richard Durbin +74 more
TL;DR: A comparison of protein coding genes reveals approximately 500 genes showing accelerated evolution on each of the gorilla, human and chimpanzee lineages, and evidence for parallel acceleration, particularly of genes involved in hearing.
References
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Journal ArticleDOI
A Mathematical Theory of Natural and Artificial Selection, Part V: Selection and Mutation
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