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Literature DB >> 22267501

The abundance of deleterious polymorphisms in humans.

Abstract

Here I show a gradual decline in the proportion of deleterious nonsynonymous SNPs (nSNPs) from tip to root of the human population tree. This study reveals that up to 48% of nSNPs specific to a single genome are deleterious in nature, which underscores the abundance of deleterious polymorphisms in humans.

Entities: Species

Mesh：

Year: 2012 PMID： 22267501 PMCID： PMC3316666 DOI： 10.1534/genetics.111.137893

Source DB: PubMed Journal: Genetics ISSN： 0016-6731 Impact factor: 4.562

34 in total

1. Effects of purifying and adaptive selection on regional variation in human mtDNA.

Authors: Eduardo Ruiz-Pesini; Dan Mishmar; Martin Brandon; Vincent Procaccio; Douglas C Wallace
Journal: Science Date: 2004-01-09 Impact factor: 47.728

2. The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations.

Authors: Gabor T Marth; Eva Czabarka; Janos Murvai; Stephen T Sherry
Journal: Genetics Date: 2004-01 Impact factor: 4.562

3. Quantitative prediction of molecular clock and ka/ks at short timescales.

Authors: Grant I Peterson; Joanna Masel
Journal: Mol Biol Evol Date: 2009-08-06 Impact factor: 16.240

4. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.

Authors: F Tajima
Journal: Genetics Date: 1989-11 Impact factor: 4.562

5. Protein polymorphism as a phase of molecular evolution.

Authors: M Kimura; T Ohta
Journal: Nature Date: 1971-02-12 Impact factor: 49.962

6. Preponderance of slightly deleterious polymorphism in mitochondrial DNA: nonsynonymous/synonymous rate ratio is much higher within species than between species.

Authors: M Hasegawa; Y Cao; Z Yang
Journal: Mol Biol Evol Date: 1998-11 Impact factor: 16.240

7. Widespread purifying selection at polymorphic sites in human protein-coding loci.

Authors: Austin L Hughes; Bernice Packer; Robert Welch; Andrew W Bergen; Stephen J Chanock; Meredith Yeager
Journal: Proc Natl Acad Sci U S A Date: 2003-12-05 Impact factor: 11.205

8. Adaptive protein evolution at the Adh locus in Drosophila.

Authors: J H McDonald; M Kreitman
Journal: Nature Date: 1991-06-20 Impact factor: 49.962

9. Inference of human population history from individual whole-genome sequences.

Authors: Heng Li; Richard Durbin
Journal: Nature Date: 2011-07-13 Impact factor: 49.962

10. Assessing the evolutionary impact of amino acid mutations in the human genome.

Authors: Adam R Boyko; Scott H Williamson; Amit R Indap; Jeremiah D Degenhardt; Ryan D Hernandez; Kirk E Lohmueller; Mark D Adams; Steffen Schmidt; John J Sninsky; Shamil R Sunyaev; Thomas J White; Rasmus Nielsen; Andrew G Clark; Carlos D Bustamante
Journal: PLoS Genet Date: 2008-05-30 Impact factor: 5.917

10 in total

The abundance of deleterious polymorphisms in humans.

1. Effects of purifying and adaptive selection on regional variation in human mtDNA.

2. The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations.

3. Quantitative prediction of molecular clock and ka/ks at short timescales.

4. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.

5. Protein polymorphism as a phase of molecular evolution.

6. Preponderance of slightly deleterious polymorphism in mitochondrial DNA: nonsynonymous/synonymous rate ratio is much higher within species than between species.

7. Widespread purifying selection at polymorphic sites in human protein-coding loci.

8. Adaptive protein evolution at the Adh locus in Drosophila.

9. Inference of human population history from individual whole-genome sequences.

10. Assessing the evolutionary impact of amino acid mutations in the human genome.

Review 1. Weak selection and protein evolution.

2. Characteristics of neutral and deleterious protein-coding variation among individuals and populations.

3. Selective constraints determine the time dependency of molecular rates for human nuclear genomes.

4. Inference of Evolutionary Forces Acting on Human Biological Pathways.

5. Genetic diversity in the interference selection limit.

6. Design and development of exome capture sequencing for the domestic pig (Sus scrofa).

7. The effects of sample size on population genomic analyses--implications for the tests of neutrality.

8. A Temporal Perspective on the Interplay of Demography and Selection on Deleterious Variation in Humans.

9. Abundance of clinical variants in exons included in multiple transcripts.

10. Harmful mutation load in the mitochondrial genomes of cattle breeds.