Abstract：
:The distinction between deleterious, neutral, and adaptive mutations is a fundamental problem in the study of molecular evolution. Two significant quantities are the fraction of DNA variation in natural populations that is deleterious and destined to be eliminated and the fraction of fixed differences between species driven by positive Darwinian selection. We estimate these quantities using the large number of human genes for which there are polymorphism and divergence data. The fraction of amino acid mutations that is neutral is estimated to be 0.20 from the ratio of common amino acid (A) to synonymous (S) single nucleotide polymorphisms (SNPs) at frequencies of > or =15%. Among the 80% of amino acid mutations that are deleterious at least 20% of them are only slightly deleterious and often attain frequencies of 1-10%. We estimate that these slightly deleterious mutations comprise at least 3% of amino acid SNPs in the average individual or at least 300 per diploid genome. This estimate is not sensitive to human population history. The A/S ratio of fixed differences is greater than that of common SNPs and suggests that a large fraction of protein divergence is adaptive and driven by positive Darwinian selection.
journal_name
Geneticsjournal_title
Geneticsauthors
Fay JC,Wyckoff GJ,Wu CIkeywords:
subject
Has Abstractpub_date
2001-07-01 00:00:00pages
1227-34issue
3eissn
0016-6731issn
1943-2631journal_volume
158pub_type
杂志文章相关文献
GENETICS文献大全abstract：:Bayesian posterior distributions are obtained for the time to the most recent common ancestor (MRCA) for a nonrecombining segment of DNA (such as the nonpseudoautosomal arm of the Y chromosome or the mitochondrial genome) for two individuals given that they match at k out of n scored markers. We argue that the distrib...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：2001-06-01 00:00:00
abstract：:Genetic study of the reproductive barriers between related species plays an essential role in understanding the process of speciation. We developed a new method for mapping all possible factors causing deviations from expected Mendelian segregation ratios in F(2) progeny, which substantially contribute to reproductive...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：2001-10-01 00:00:00
abstract：:The term "micro-evo-devo" refers to the combined study of the genetic and developmental bases of natural variation in populations and the evolutionary forces that have shaped this variation. It thus represents a synthesis of the fields of evolutionary developmental biology and population genetics. As has been pointed ...
journal_title：Genetics
pub_type： 杂志文章,评审
doi：10.1534/genetics.113.156463
更新日期：2013-11-01 00:00:00
abstract：:The genetic requirements for spontaneous and transcription-stimulated mitotic recombination were determined using a recombination system that employs heterochromosomal lys2 substrates that can recombine only by crossover or only by gene conversion. The substrates were fused either to a constitutive low-level promoter ...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：2002-09-01 00:00:00
abstract：:Plant endo-beta-1,3-glucanases (EGases) degrade the cell wall polysaccharides of attacking pathogens and release elicitors of additional plant defenses. Isozymes EGaseA and EGaseB of soybean differ in susceptibility to a glucanase inhibitor protein (GIP1) produced by Phytophthora sojae, a major soybean pathogen. EGase...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.103.025098
更新日期：2005-02-01 00:00:00
abstract：:The distribution within anthers of maize plants of microsporocytes of differing crossover class was studied by application of the serial-sectioning technique to plants heterozygous for a paracentric inversion. In such material, cells with four-strand double crossovers within the inversion are distinguishable from cell...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1980-05-01 00:00:00
abstract：:Adaptive dynamics formalism demonstrates that, in a constant environment, a continuous trait may first converge to a singular point followed by spontaneous transition from a unimodal trait distribution into a bimodal one, which is called "evolutionary branching." Most previous analyses of evolutionary branching have b...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.112.144980
更新日期：2013-01-01 00:00:00
abstract：:We identified the Drosophila melanogaster Signal peptide peptidase gene (Spp) that encodes a multipass transmembrane aspartyl protease. Drosophila SPP is homologous to the human signal peptide peptidase (SPP) and is distantly related to the presenilins. We show that, like human SPP, Drosophila SPP can proteolyze a mod...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.104.039933
更新日期：2005-05-01 00:00:00
abstract：:The F(1) hybrids of Nicotiana suaveolens (subgenus Petunioides, 2n = 32) and N. glutinosa (subgenus Tabacum, 2n = 24), were examined during their development, from seedlings to mature plants. It was observed that in the hybrids, there was a progressive change of dominant N. glutinosa morphological characteristics towa...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1973-04-01 00:00:00
abstract：:Hybrid male sterility (HMS) contributes to reproductive isolation commonly observed among house mouse (Mus musculus) subspecies, both in the wild and in laboratory crosses. Incompatibilities involving specific Prdm9 alleles and certain Chromosome (Chr) X genotypes are known determinants of fertility and HMS, and previ...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.120.303474
更新日期：2020-10-01 00:00:00
abstract：:We have determined the complete nucleotide sequence of the mitochondrial DNA (mtDNA) of the dogfish, Scyliorhinus canicula. The 16,697-bp-long mtDNA possesses a gene organization identical to that of the Osteichthyes, but different from that of the sea lamprey Petromyzon marinus. The main features of the mtDNA of oste...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：:Evolution through natural selection suggests unnecessary genes are lost. We observed that the yeast Candida glabrata lost the gene encoding a phosphate-repressible acid phosphatase (PHO5) present in many yeasts including Saccharomyces cerevisiae. However, C. glabrata still had phosphate starvation-inducible phosphatas...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.110.120824
更新日期：2010-11-01 00:00:00
abstract：:An analysis of the effects of spontaneous mutations affecting age-specific mortality was conducted using 29 lines of Drosophila melanogaster that had accumulated spontaneous mutations for 19 generations. Divergence among the lines was used to estimate the mutational variance for weekly mortality rates and the covarian...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：:The present report is a study of 60 intragenic suppressors located in the A or E group of the b2 spore-color locus of Ascobolus immersus. The frameshift nature of the suppressors was shown by 19 combinations of plus and minus suppressor mutations. The location of the mutation sites on the genetic map of group A was de...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1979-08-01 00:00:00
abstract：:Genetic analyses of nine traits associated with stem water-soluble carbohydrate (SWSC) accumulation and remobilization at grain-filling period under drought stress (DS) and well-watered (WW) conditions were undertaken using doubled haploid lines (DHLs) derived from two Chinese common wheat cultivars. Some significantl...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.106.068361
更新日期：2007-05-01 00:00:00
abstract：:For most common diseases with heritable components, not a single or a few single-nucleotide polymorphisms (SNPs) explain most of the variance for these disorders. Instead, much of the variance may be caused by interactions (epistasis) among multiple SNPs or interactions with environmental conditions. We present a new ...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.107.071696
更新日期：2007-06-01 00:00:00
abstract：:Restorer-of-fertility (Rf) alleles for S-type cytoplasmic male sterility (CMS-S) are prevalent in Mexican races of maize and teosinte. Forty-five Rf alleles from 26 races of maize and 6 Rf alleles from different accessions of teosinte were found to be homozygous viable, consistent with the hypothesis that they are nat...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.166.2.959
更新日期：2004-02-01 00:00:00
abstract：:Restriction map variation in two 5-6-kb chloroplast DNA regions of five diploid Aegilops species in the section Sitopsis and two wild tetraploid wheats, Triticum dicoccoides and Triticum araraticum, was investigated with a battery of four-cutter restriction enzymes. A single accession each of Triticum durum, Triticum ...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：:Mutagenic DNA repair (MDR) employs low-fidelity DNA polymerases capable of replicating past DNA lesions resulting from exposure to high-energy ultraviolet radiation (UVR). MDR confers UVR tolerance and activation initiates a transient mutator phenotype that may provide opportunities for adaptation. To investigate the ...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.108.096131
更新日期：2009-01-01 00:00:00
abstract：:Mendelian loci that control the expression levels of transcripts are called expression quantitative trait loci (eQTL). When mapping eQTL, we often deal with thousands of expression traits simultaneously, which complicates the statistical model and data analysis. Two simple approaches may be taken in eQTL analysis: (1)...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.106.065599
更新日期：2007-05-01 00:00:00
abstract：:Persistence time of a mutant allele, the expected number of generations before its elimination from the population, can be estimated as the ratio of the number of segregating mutations per individual over the mutation rate per generation. We screened two natural populations of Drosophila melanogaster for mutations cau...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.105.046094
更新日期：2005-12-01 00:00:00
abstract：:In mismatch repair (MMR), members of the MLH gene family have been proposed to act as key molecular matchmakers to coordinate mismatch recognition with downstream repair functions that result in mispair excision. Two members of this gene family, MLH1 and MLH3, have also been implicated in meiotic crossing over. These ...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：:We extensively phenotyped 6000 Arabidopsis plants with experimentally perturbed DNA methylomes as well as a diverse panel of natural accessions in a common garden. We found that alterations in DNA methylation not only caused heritable phenotypic diversity but also produced heritability patterns closely resembling thos...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.111.128744
更新日期：2011-08-01 00:00:00
abstract：:Various management strategies aim at maintaining pesticide resistance frequency under a threshold value by taking advantage of the benefit of the fitness penalty (the cost) expressed by the resistance allele outside the treated area or during the pesticide selection "off years." One method to estimate a fitness cost i...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.104.036541
更新日期：2006-06-01 00:00:00
abstract：:The aim of many genetic studies is to locate the genomic regions (called quantitative trait loci, QTL) that contribute to variation in a quantitative trait (such as body weight). Confidence intervals for the locations of QTL are particularly important for the design of further experiments to identify the gene or genes...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.106.061549
更新日期：2006-09-01 00:00:00
abstract：:Drosophila melanogaster heterochromatin protein 2 (HP2) interacts with heterochromatin protein 1 (HP1). In polytene chromosomes, HP2 and HP1 colocalize at the chromocenter, telomeres, and the small fourth chromosome. We show here that HP2 is present in the arms as well as the centromeric regions of mitotic chromosomes...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.106.057604
更新日期：2006-11-01 00:00:00
abstract：:A laboratory strain of Drosophila pseudoobscura (L116) is studied that, when crossed to sex-ratio homozygous females, produces sons that exhibit varying levels of the male sex-ratio (msr) phenotype. The msr phenotype occurs only in sex-ratio males and is due to the production of a high frequency of nullo-XY sperm. The...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1986-06-01 00:00:00
abstract：:The T4 mutations px, y and 1206 inactivate an error-prone recombination-like repair system, reducing or abolishing mutagenesis by UV irradiation, MMS, and white light irradiation in the presence of the photosensitizer 8MOP. Both px and y increase some spontaneous mutation rates and slightly enhance proflavin mutagenes...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1974-09-01 00:00:00
abstract：:Primary cilia have essential roles in transducing signals in eukaryotes. At their core is the ciliary axoneme, a microtubule-based structure that defines cilium morphology and provides a substrate for intraflagellar transport. However, the extent to which axonemal microtubules are specialized for sensory cilium functi...
journal_title：Genetics
pub_type： 杂志文章
doi：10.1534/genetics.110.116996
更新日期：2010-07-01 00:00:00
abstract：:The behaviour of two "meiotic drive" systems, Segregation-Distorter (SD) and the sex chromosome sc(4)sc(8) has been examined in the same meiocyte. It has been found that the two systems interact in a specific way. When the distorting effects of SD and sc(4)sc(8) are against each other, there is no detectable interacti...
journal_title：Genetics
pub_type： 杂志文章
doi：
更新日期：1972-09-01 00:00:00
