52 research outputs found
Natural selection reduced diversity on human Y chromosomes
The human Y chromosome exhibits surprisingly low levels of genetic diversity.
This could result from neutral processes if the effective population size of
males is reduced relative to females due to a higher variance in the number of
offspring from males than from females. Alternatively, selection acting on new
mutations, and affecting linked neutral sites, could reduce variability on the
Y chromosome. Here, using genome-wide analyses of X, Y, autosomal and
mitochondrial DNA, in combination with extensive population genetic
simulations, we show that low observed Y chromosome variability is not
consistent with a purely neutral model. Instead, we show that models of
purifying selection are consistent with observed Y diversity. Further, the
number of sites estimated to be under purifying selection greatly exceeds the
number of Y-linked coding sites, suggesting the importance of the highly
repetitive ampliconic regions. While we show that purifying selection removing
deleterious mutations can explain the low diversity on the Y chromosome, we
cannot exclude the possibility that positive selection acting on beneficial
mutations could have also reduced diversity in linked neutral regions, and may
have contributed to lowering human Y chromosome diversity. Because the
functional significance of the ampliconic regions is poorly understood, our
findings should motivate future research in this area.Comment: 43 pages, 11 figure
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Genomic analyses inform on migration events during the peopling of Eurasia
High-coverage whole-genome sequence studies have so far focused\ud
on a limited number1 of geographically restricted populations2–5,\ud
or been targeted at specific diseases, such as cancer6. Nevertheless,\ud
the availability of high-resolution genomic data has led to the\ud
development of new methodologies for inferring population\ud
history7–9 and refuelled the debate on the mutation rate in humans10.\ud
Here we present the Estonian Biocentre Human Genome Diversity\ud
Panel (EGDP), a dataset of 483 high-coverage human genomes\ud
from 148 populations worldwide, including 379 new genomes from\ud
125 populations, which we group into diversity and selection\ud
sets. We analyse this dataset to refine estimates of continent-wide\ud
patterns of heterozygosity, long- and short-distance gene flow, archaic\ud
admixture, and changes in effective population size through time as\ud
well as for signals of positive or balancing selection. We find a genetic\ud
signature in present-day Papuans that suggests that at least 2% of\ud
their genome originates from an early and largely extinct expansion\ud
of anatomically modern humans (AMHs) out of Africa. Together\ud
with evidence from the western Asian fossil record11, and admixture\ud
between AMHs and Neanderthals predating the main Eurasian\ud
expansion12, our results contribute to the mounting evidence for\ud
the presence of AMHs out of Africa earlier than 75,000 years ago
Sloan Digital Sky Survey IV: Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median ). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July
Sloan Digital Sky Survey IV: mapping the Milky Way, nearby galaxies, and the distant universe
We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median ). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July
Sloan Digital Sky Survey IV : mapping the Milky Way, nearby galaxies, and the distant universe
We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z ~ 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z ~ 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July
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Sloan Digital Sky Survey IV: Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing
three major spectroscopic programs. The Apache Point Observatory Galactic
Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky
Way stars at high resolution and high signal-to-noise ratio in the
near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA)
survey is obtaining spatially-resolved spectroscopy for thousands of nearby
galaxies (median redshift of z = 0.03). The extended Baryon Oscillation
Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas
distributions between redshifts z = 0.6 and 3.5 to constrain cosmology using
baryon acoustic oscillations, redshift space distortions, and the shape of the
power spectrum. Within eBOSS, we are conducting two major subprograms: the
SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray
AGN and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey
(TDSS), obtaining spectra of variable sources. All programs use the 2.5-meter
Sloan Foundation Telescope at Apache Point Observatory; observations there
began in Summer 2014. APOGEE-2 also operates a second near-infrared
spectrograph at the 2.5-meter du Pont Telescope at Las Campanas Observatory,
with observations beginning in early 2017. Observations at both facilities are
scheduled to continue through 2020. In keeping with previous SDSS policy,
SDSS-IV provides regularly scheduled public data releases; the first one, Data
Release 13, was made available in July 2016
Genomic analyses inform on migration events during the peopling of Eurasia.
High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.Support was provided by: Estonian Research Infrastructure Roadmap grant no 3.2.0304.11-0312; Australian Research Council Discovery grants (DP110102635 and DP140101405) (D.M.L., M.W. and E.W.); Danish National Research Foundation; the Lundbeck Foundation and KU2016 (E.W.); ERC Starting Investigator grant (FP7 - 261213) (T.K.); Estonian Research Council grant PUT766 (G.C. and M.K.); EU European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre (R.V.; M.Me. and A.Me.), and Centre of Excellence for Genomics and Translational Medicine Project No. 2014-2020.4.01.15-0012 to EGC of UT (A.Me.) and EBC (M.Me.); Estonian Institutional Research grant IUT24-1 (L.S., M.J., A.K., B.Y., K.T., C.B.M., Le.S., H.Sa., S.L., D.M.B., E.M., R.V., G.H., M.K., G.C., T.K. and M.Me.) and IUT20-60 (A.Me.); French Ministry of Foreign and European Affairs and French ANR grant number ANR-14-CE31-0013-01 (F.-X.R.); Gates Cambridge Trust Funding (E.J.); ICG SB RAS (No. VI.58.1.1) (D.V.L.); Leverhulme Programme grant no. RP2011-R-045 (A.B.M., P.G. and M.G.T.); Ministry of Education and Science of Russia; Project 6.656.2014/K (S.A.F.); NEFREX grant funded by the European Union (People Marie Curie Actions; International Research Staff Exchange Scheme; call FP7-PEOPLE-2012-IRSES-number 318979) (M.Me., G.H. and M.K.); NIH grants 5DP1ES022577 05, 1R01DK104339-01, and 1R01GM113657-01 (S.Tis.); Russian Foundation for Basic Research (grant N 14-06-00180a) (M.G.); Russian Foundation for Basic Research; grant 16-04-00890 (O.B. and E.B); Russian Science Foundation grant 14-14-00827 (O.B.); The Russian Foundation for Basic Research (14-04-00725-a), The Russian Humanitarian Scientific Foundation (13-11-02014) and the Program of the Basic Research of the RAS Presidium “Biological diversity” (E.K.K.); Wellcome Trust and Royal Society grant WT104125AIA & the Bristol Advanced Computing Research Centre (http://www.bris.ac.uk/acrc/) (D.J.L.); Wellcome Trust grant 098051 (Q.A.; C.T.-S. and Y.X.); Wellcome Trust Senior Research Fellowship grant 100719/Z/12/Z (M.G.T.); Young Explorers Grant from the National Geographic Society (8900-11) (C.A.E.); ERC Consolidator Grant 647787 ‘LocalAdaptatio’ (A.Ma.); Program of the RAS Presidium “Basic research for the development of the Russian Arctic” (B.M.); Russian Foundation for Basic Research grant 16-06-00303 (E.B.); a Rutherford Fellowship (RDF-10-MAU-001) from the Royal Society of New Zealand (M.P.C.)
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