4.5 Article

Evolutionary dynamics of pseudoautosomal region 1 in humans and great apes

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

Evolutionary and biomedical insights from a marmoset diploid genome assembly

Chentao Yang et al.

Summary: Through trio-binning approach, a high-quality diploid reference genome for the common marmoset has been presented, allowing discoveries of recent expansions in the sex-differentiation region and unique evolutionary changes in the marmoset Y chromosome.

NATURE (2021)

Article Genetics & Heredity

Evolutionary dynamics of the human pseudoautosomal regions

Bruno Monteiro et al.

Summary: Recombination between the X and Y human sex chromosomes is limited to pseudoautosomal regions (PARs) with distinct evolutionary origins. Despite being crucial for male meiosis, the genetic diversity and evolutionary dynamics of PAR regions are poorly understood. This study analyzed and compared the genetic diversity of PAR regions, finding similar patterns in both PAR1 and PAR2 despite differences in male recombination rates. The observed differences in allele frequencies between X and Y chromosomes in PARs suggest that recombination is not enough to homogenize the gene pool, raising questions about underlying evolutionary forces such as selection. New data from intergenerational transmission studies of PARs are needed to better understand their evolution and role in male-driven aneuploidies.

PLOS GENETICS (2021)

Article Genetics & Heredity

Population dynamics of GC-changing mutations in humans and great apes

Juraj Bergman et al.

Summary: The composition of genomes is influenced by different rates of mutations with transitions occurring more frequently than transversions, particularly at CpG sites. Recombination-associated GC-biased gene conversion affects GC-changing mutations differently across human populations and great ape species, with a stronger impact on transitions, especially CpG transitions. The overall strength of gBGC is correlated with effective population sizes in humans, but there are exceptions such as in European populations. Study also suggests that species of the Gorilla and Pongo genus have reduced gBGC effect on CpG sites.

GENETICS (2021)

Article Multidisciplinary Sciences

The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes

Laurits Skov et al.

NATURE (2020)

Article Multidisciplinary Sciences

Ensuring meiotic DNA break formation in the mouse pseudoautosomal region

Laurent Acquaviva et al.

NATURE (2020)

Article Multidisciplinary Sciences

Progressive Cactus is a multiple-genome aligner for the thousand-genome era

Joel Armstrong et al.

NATURE (2020)

Article Multidisciplinary Sciences

The evolutionary history of Neanderthal and Denisovan Y chromosomes

Martin Petr et al.

SCIENCE (2020)

Article Biochemical Research Methods

ape 5.0: an environment for modern phylogenetics and evolutionary analyses in R

Emmanuel Paradis et al.

BIOINFORMATICS (2019)

Article Multidisciplinary Sciences

Characterizing mutagenic effects of recombination through a sequence-level genetic map

Bjarni V. Halldorsson et al.

SCIENCE (2019)

Article Multidisciplinary Sciences

Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes

Ipsita Agarwal et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

Article Ecology

Direct estimation of mutations in great apes reconciles phylogenetic dating

Soren Besenbacher et al.

NATURE ECOLOGY & EVOLUTION (2019)

Article Multidisciplinary Sciences

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

Hakon Jonsson et al.

NATURE (2017)

Article Multidisciplinary Sciences

A high-coverage Neandertal genome from Vindija Cave in Croatia

Kay Pruefer et al.

SCIENCE (2017)

Article Biochemistry & Molecular Biology

Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species

Alexander Nater et al.

CURRENT BIOLOGY (2017)

Article Biochemistry & Molecular Biology

The Time Scale of Recombination Rate Evolution in Great Apes

Laurie S. Stevison et al.

MOLECULAR BIOLOGY AND EVOLUTION (2016)

Article Genetics & Heredity

The rate of meiotic gene conversion varies by sex and age

Bjarni V. Halldorsson et al.

NATURE GENETICS (2016)

Article Multidisciplinary Sciences

Chimpanzee genomic diversity reveals ancient admixture with bonobos

Marc de Manuel et al.

SCIENCE (2016)

Article Genetics & Heredity

Sex-Specific Selection and Sex-Biased Gene Expression in Humans and Flies

Changde Cheng et al.

PLOS GENETICS (2016)

Article Biochemistry & Molecular Biology

Quantification of GC-biased gene conversion in the human genome

Sylvain Glemin et al.

GENOME RESEARCH (2015)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Multidisciplinary Sciences

Tissue-based map of the human proteome

Mathias Uhlen et al.

SCIENCE (2015)

Article Ecology

Inference of directional selection and mutation parameters assuming equilibrium

Claus Vogl et al.

THEORETICAL POPULATION BIOLOGY (2015)

Article Genetics & Heredity

Biased Gene Conversion Skews Allele Frequencies in Human Populations, Increasing the Disease Burden of Recessive Alleles

Joseph Lachance et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Genetics & Heredity

Signatures of Sex-Antagonistic Selection on Recombining Sex Chromosomes

Mark Kirkpatrick et al.

GENETICS (2014)

Article Multidisciplinary Sciences

The complete genome sequence of a Neanderthal from the Altai Mountains

Kay Pruefer et al.

NATURE (2014)

Article Multidisciplinary Sciences

The genomic landscape of Neanderthal ancestry in present-day humans

Sriram Sankararaman et al.

NATURE (2014)

Article Multidisciplinary Sciences

Origins and functional evolution of Y chromosomes across mammals

Diego Cortez et al.

NATURE (2014)

Article Multidisciplinary Sciences

Recombination initiation maps of individual human genomes

Florencia Pratto et al.

SCIENCE (2014)

Article Multidisciplinary Sciences

Primate evolution of the recombination regulator PRDM9

Jerrod J. Schwartz et al.

NATURE COMMUNICATIONS (2014)

Article Genetics & Heredity

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

Martin A. Mensah et al.

PLOS GENETICS (2014)

Article Genetics & Heredity

Recombination in the Human Pseudoautosomal Region PAR1

Anjali G. Hinch et al.

PLOS GENETICS (2014)

Article Biochemical Research Methods

The UCSC genome browser and associated tools

Robert M. Kuhn et al.

BRIEFINGS IN BIOINFORMATICS (2013)

Article Evolutionary Biology

Detecting Evolutionary Strata on the Human X Chromosome in the Absence of Gametologous Y-Linked Sequences

Ravi Shanker Pandey et al.

GENOME BIOLOGY AND EVOLUTION (2013)

Article Biotechnology & Applied Microbiology

Identifying human-rhesus macaque gene orthologs using heterospecific SNP probes

Sree Kanthaswamy et al.

GENOMICS (2013)

Article Multidisciplinary Sciences

Great ape genetic diversity and population history

Javier Prado-Martinez et al.

NATURE (2013)

Article Multidisciplinary Sciences

Insights into hominid evolution from the gorilla genome sequence

Aylwyn Scally et al.

NATURE (2012)

Article Multidisciplinary Sciences

A Fine-Scale Chimpanzee Genetic Map from Population Sequencing

Adam Auton et al.

SCIENCE (2012)

Article Multidisciplinary Sciences

Sex-Specific Adaptation Drives Early Sex Chromosome Evolution in Drosophila

Qi Zhou et al.

SCIENCE (2012)

Article Biochemical Research Methods

phangorn: phylogenetic analysis in R

Klaus Peter Schliep

BIOINFORMATICS (2011)

Review Endocrinology & Metabolism

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

Gerhard Binder

HORMONE RESEARCH IN PAEDIATRICS (2011)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Review Genetics & Heredity

About PAR: The distinct evolutionary dynamics of the pseudoautosomal region

Sarah P. Otto et al.

TRENDS IN GENETICS (2011)

Article Multidisciplinary Sciences

Genetic history of an archaic hominin group from Denisova Cave in Siberia

David Reich et al.

NATURE (2010)

Review Genetics & Heredity

Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes

Laurent Duret et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)

Article Genetics & Heredity

Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia

Charles G. Mullighan et al.

NATURE GENETICS (2009)

Review Biochemistry & Molecular Biology

The human pseudoautosomal regions: a review for genetic epidemiologists

Antonia Flaquer et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

The impact of recombination on nucleotide substitutions in the human genome

Laurent Duret et al.

PLOS GENETICS (2008)

Article Biochemistry & Molecular Biology

Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia

T. Lencz et al.

MOLECULAR PSYCHIATRY (2007)

Article Multidisciplinary Sciences

Evolutionary and biomedical insights from the rhesus macaque genome

Richard A. Gibbs et al.

SCIENCE (2007)

Review Cell Biology

The pseudoautosomal regions, SHOX and disease

Rudiger Jorg Blaschke et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2006)

Review Ecology

Steps in the evolution of heteromorphic sex chromosomes

D Charlesworth et al.

HEREDITY (2005)

Article Multidisciplinary Sciences

The fine-scale structure of recombination rate variation in the human genome

GAT McVean et al.

SCIENCE (2004)

Article Biochemistry & Molecular Biology

Phylogenetic estimation of context-dependent substitution rates by maximum likelihood

A Siepel et al.

MOLECULAR BIOLOGY AND EVOLUTION (2004)

Article Biochemistry & Molecular Biology

A gradient of silent substitution rate in the human pseudoautosomal region

DA Filatov

MOLECULAR BIOLOGY AND EVOLUTION (2004)

Article Biochemistry & Molecular Biology

Recombination drives the evolution of GC-content in the human genome

J Meunier et al.

MOLECULAR BIOLOGY AND EVOLUTION (2004)

Article Genetics & Heredity

A high-resolution recombination map of the human genome

A Kong et al.

NATURE GENETICS (2002)

Article Genetics & Heredity

Genomewide comparison of DNA sequences between humans and chimpanzees

I Ebersberger et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)