Abstract:
:The male-specific region of the human Y chromosome (MSY) includes eight large inverted repeats (palindromes) in which arm-to-arm similarity exceeds 99.9%, due to gene conversion activity. Here, we studied one of these palindromes, P6, in order to illuminate the dynamics of the gene conversion process. We genotyped ten paralogous sequence variants (PSVs) within the arms of P6 in 378 Y chromosomes whose evolutionary relationships within the SNP-defined Y phylogeny are known. This allowed the identification of 146 historical gene conversion events involving individual PSVs, occurring at a rate of 2.9-8.4×10(-4) events per generation. A consideration of the nature of nucleotide change and the ancestral state of each PSV showed that the conversion process was significantly biased towards the fixation of G or C nucleotides (GC-biased), and also towards the ancestral state. Determination of haplotypes by long-PCR allowed likely co-conversion of PSVs to be identified, and suggested that conversion tract lengths are large, with a mean of 2068 bp, and a maximum in excess of 9 kb. Despite the frequent formation of recombination intermediates implied by the rapid observed gene conversion activity, resolution via crossover is rare: only three inversions within P6 were detected in the sample. An analysis of chimpanzee and gorilla P6 orthologs showed that the ancestral state bias has existed in all three species, and comparison of human and chimpanzee sequences with the gorilla outgroup confirmed that GC bias of the conversion process has apparently been active in both the human and chimpanzee lineages.
journal_name
PLoS Genetjournal_title
PLoS geneticsauthors
Hallast P,Balaresque P,Bowden GR,Ballereau S,Jobling MAdoi
10.1371/journal.pgen.1003666subject
Has Abstractpub_date
2013-01-01 00:00:00pages
e1003666issue
7eissn
1553-7390issn
1553-7404pii
PGENETICS-D-13-00376journal_volume
9pub_type
杂志文章相关文献
PLoS Genetics文献大全abstract::Global climate change, increasingly erratic weather and a burgeoning global population are significant threats to the sustainability of future crop production. There is an urgent need for the development of robust measures that enable crops to withstand the uncertainty of climate change whilst still producing maximum ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005705
更新日期:2015-12-03 00:00:00
abstract::Marine ecosystems are changing rapidly as the oceans warm and become more acidic. The physical factors and the changes to ocean chemistry that they drive can all be measured with great precision. Changes in the biological composition of communities in different ocean regions are far more challenging to measure because...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007943
更新日期:2019-02-08 00:00:00
abstract::Successful reproduction is critical to pass genes to the next generation. Seminal proteins contribute to important reproductive processes that lead to fertilization in species ranging from insects to mammals. In Drosophila, the male's accessory gland is a source of seminal fluid proteins that affect the reproductive o...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.0030238
更新日期:2007-12-01 00:00:00
abstract::Understanding how axon guidance receptors are activated by their extracellular ligands to regulate growth cone motility is critical to learning how proper wiring is established during development. Roundabout (Robo) is one such guidance receptor that mediates repulsion from its ligand Slit in both invertebrates and ver...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005402
更新日期:2015-09-03 00:00:00
abstract::One of the striking findings of comparative developmental genetics was that expression patterns of core transcription factors are extraordinarily conserved in bilaterians. However, it remains unclear whether cis-regulatory elements of their target genes also exhibit common signatures associated with conserved embryoni...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000912
更新日期:2010-04-15 00:00:00
abstract::A robust, bistable switch regulates the fluctuations between wakefulness and natural sleep as well as those between wakefulness and anesthetic-induced unresponsiveness. We previously provided experimental evidence for the existence of a behavioral barrier to transitions between these states of arousal, which we call n...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003605
更新日期:2013-01-01 00:00:00
abstract::Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed D...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003515
更新日期:2013-06-01 00:00:00
abstract::Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxin...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000616
更新日期:2009-08-01 00:00:00
abstract::The cell envelope of Gram-negative bacteria is a formidable barrier that is difficult for antimicrobial drugs to penetrate. Thus, the list of treatments effective against these organisms is small and with the rise of new resistance mechanisms is shrinking rapidly. New therapies to treat Gram-negative bacterial infecti...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004056
更新日期:2014-01-01 00:00:00
abstract::The conserved protein kinase Sch9 is a central player in the nutrient-induced signaling network in yeast, although only few of its direct substrates are known. We now provide evidence that Sch9 controls the vacuolar proton pump (V-ATPase) to maintain cellular pH homeostasis and ageing. A synthetic sick phenotype arise...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006835
更新日期:2017-06-12 00:00:00
abstract::Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 years ago. However, there has been no accurate characterization of the proportion of mixture, or of its date. We analyze genome-...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1001373
更新日期:2011-04-01 00:00:00
abstract::Evolutionary outcomes depend not only on the selective forces acting upon a species, but also on the genetic background. However, large timescales and uncertain historical selection pressures can make it difficult to discern such important background differences between species. Experimental evolution is one tool to c...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006585
更新日期:2017-02-14 00:00:00
abstract::[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...
journal_title:PLoS genetics
pub_type: 杂志文章,已发布勘误
doi:10.1371/journal.pgen.1007639
更新日期:2018-08-30 00:00:00
abstract::Development of eye tissue is initiated by a conserved set of transcription factors termed retinal determination network (RDN). In the fruit fly Drosophila melanogaster, the zinc-finger transcription factor Glass acts directly downstream of the RDN to control identity of photoreceptor as well as non-photoreceptor cells...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008269
更新日期:2019-07-12 00:00:00
abstract::The Drosophila testis is a well-established system for studying stem cell self-renewal and competition. In this tissue, the niche supports two stem cell populations, germ line stem cells (GSCs), which give rise to sperm, and somatic stem cells called cyst stem cells (CySCs), which support GSCs and their descendants. I...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005815
更新日期:2016-01-25 00:00:00
abstract::The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of different predisposing variants. We investigated the role of four thrombosis genes: coagulation factor V (F5), intercellu...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.0030120
更新日期:2007-07-01 00:00:00
abstract::In metazoan germlines, the piRNA pathway acts as a genomic immune system, employing small RNA-mediated silencing to defend host DNA from the harmful effects of transposable elements (TEs). Expression of genomic TEs is proposed to initiate self regulation by increasing the production of repressive piRNAs, thereby "adap...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008861
更新日期:2020-06-11 00:00:00
abstract::Curly, described almost a century ago, is one of the most frequently used markers in Drosophila genetics. Despite this the molecular identity of Curly has remained obscure. Here we show that Curly mutations arise in the gene dual oxidase (duox), which encodes a reactive oxygen species (ROS) generating NADPH oxidase. U...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005625
更新日期:2015-11-20 00:00:00
abstract::Hereditary nasal parakeratosis (HNPK), an inherited monogenic autosomal recessive skin disorder, leads to crusts and fissures on the nasal planum of Labrador Retrievers. We performed a genome-wide association study (GWAS) using 13 HNPK cases and 23 controls. We obtained a single strong association signal on chromosome...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003848
更新日期:2013-01-01 00:00:00
abstract::Evolutionary life history theory seeks to explain how reproductive and survival traits are shaped by selection through allocations of an individual's resources to competing life functions. Although life-history traits evolve rapidly, little is known about the genetic and cellular mechanisms that control and couple the...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006219
更新日期:2016-07-28 00:00:00
abstract::The human genome encodes thousands of long noncoding RNA (lncRNA) genes; the function of majority of them is poorly understood. Aberrant expression of a significant number of lncRNAs is observed in various diseases, including cancer. To gain insights into the role of lncRNAs in breast cancer progression, we performed ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007802
更新日期:2018-11-29 00:00:00
abstract::Anti-tumor necrosis factor alpha (anti-TNF) biologic therapy is a widely used treatment for rheumatoid arthritis (RA). It is unknown why some RA patients fail to respond adequately to anti-TNF therapy, which limits the development of clinical biomarkers to predict response or new drugs to target refractory cases. To u...
journal_title:PLoS genetics
pub_type: 杂志文章,meta分析
doi:10.1371/journal.pgen.1003394
更新日期:2013-03-01 00:00:00
abstract::Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007724
更新日期:2018-10-31 00:00:00
abstract::Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene de...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003536
更新日期:2013-06-01 00:00:00
abstract::The neonatal intestine is a very complex and dynamic organ that must rapidly adapt and remodel in response to a barrage of environmental stimuli during the first few postnatal weeks. Recent studies demonstrate that the zinc finger transcriptional repressor Blimp1/Prdm1 plays an essential role governing postnatal repro...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005375
更新日期:2015-07-09 00:00:00
abstract::Biogenesis of mammalian mitochondrial ribosomes requires a concerted maturation of both the small (SSU) and large subunit (LSU). We demonstrate here that the m(5)C methyltransferase NSUN4, which forms a complex with MTERF4, is essential in mitochondrial ribosomal biogenesis as mitochondrial translation is abolished in...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004110
更新日期:2014-02-06 00:00:00
abstract::Evolution of gene regulation is crucial for our understanding of the phenotypic differences between species, populations and individuals. Sequence-specific binding of transcription factors to the regulatory regions on the DNA is a key regulatory mechanism that determines gene expression and hence heritable phenotypic ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005639
更新日期:2015-11-06 00:00:00
abstract::Genetic variants in genome-wide association studies (GWAS) are tested for disease association mostly using simple regression, one variant at a time. Standard approaches to improve power in detecting disease-associated SNPs use multiple regression with Bayesian variable selection in which a sparsity-enforcing prior on ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007856
更新日期:2018-12-31 00:00:00
abstract::Proteins secreted by pathogens during host colonization largely determine the outcome of pathogen-host interactions and are commonly called 'effectors'. In fungal plant pathogens, coordinated transcriptional up-regulation of effector genes is a key feature of pathogenesis and effectors are often encoded in genomic reg...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006401
更新日期:2016-11-17 00:00:00
abstract::Chemosensory pheromonal information regulates aggression and reproduction in many species, but how pheromonal signals are transduced to reliably produce behavior is not well understood. Here we demonstrate that the pheromonal signals detected by Gr32a-expressing chemosensory neurons to enhance male aggression are filt...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004356
更新日期:2014-05-22 00:00:00