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The detection of shared and ancestral polymorphisms. 共同多态性和祖先多态性的检测。
Genetical research Pub Date : 2005-10-01 Epub Date: 2005-10-06 DOI: 10.1017/S0016672305007743
Brian Charlesworth, Carolina Bartolomé, Véronique Noël
{"title":"The detection of shared and ancestral polymorphisms.","authors":"Brian Charlesworth,&nbsp;Carolina Bartolomé,&nbsp;Véronique Noël","doi":"10.1017/S0016672305007743","DOIUrl":"https://doi.org/10.1017/S0016672305007743","url":null,"abstract":"<p><p>There is increasing evidence that closely related species contain many polymorphisms that were present in their common ancestral species. Use of a more distant relative as an outgroup increases the ability to detect such ancestral polymorphisms. We describe a method for further improving estimates of the fraction of polymorphisms that are ancestral, and illustrate this with reference to data on Drosophila pseudoobscura and D. miranda. We also derive formulae for the proportion of fixations arising from ancestral polymorphisms and new mutations, respectively. The results should be useful for tests of selection based on the levels of expected and observed ancestral polymorphisms.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 2","pages":"149-57"},"PeriodicalIF":0.0,"publicationDate":"2005-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007743","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25623338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 50
A large-scale screening of the normalized mammalian mitochondrial gene expression profiles. 规范化哺乳动物线粒体基因表达谱的大规模筛选。
Genetical research Pub Date : 2005-10-01 DOI: 10.1017/S0016672305007718
Sergey V Anisimov
{"title":"A large-scale screening of the normalized mammalian mitochondrial gene expression profiles.","authors":"Sergey V Anisimov","doi":"10.1017/S0016672305007718","DOIUrl":"https://doi.org/10.1017/S0016672305007718","url":null,"abstract":"<p><p>Mammalian mitochondrial genomes are organized in a conserved and extremely compact manner, encoding molecules that play a vital role in oxidative phosphorylation (OXPHOS) and carry out a number of other important biological functions. A large-scale screening of the normalized mitochondrial gene expression profiles generated from publicly available mammalian serial analysis of gene expression (SAGE) datasets (over 17.7 millions of tags) was performed in this study. Acquired SAGE libraries represent an extensive range of human, mouse, rat, bovine and swine cell and tissue samples (normal and pathological) in a variety of conditions. Using a straightforward in silico algorithm, variations in total mitochondrial gene expression, as well as in the expression of individual genes encoded by mitochondrial genomes are addressed, and common patterns in the species- and tissue-specific mitochondrial gene expression profiles are discussed.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 2","pages":"127-38"},"PeriodicalIF":0.0,"publicationDate":"2005-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007718","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25751999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
Many QTLs with minor additive effects are associated with a large difference in growth between two selection lines in chickens. 许多具有轻微加性效应的qtl与鸡两个选择系之间的生长差异有关。
Genetical research Pub Date : 2005-10-01 DOI: 10.1017/S0016672305007767
Lina Jacobsson, Hee-Bok Park, Per Wahlberg, Robert Fredriksson, Miguel Perez-Enciso, Paul B Siegel, Leif Andersson
{"title":"Many QTLs with minor additive effects are associated with a large difference in growth between two selection lines in chickens.","authors":"Lina Jacobsson,&nbsp;Hee-Bok Park,&nbsp;Per Wahlberg,&nbsp;Robert Fredriksson,&nbsp;Miguel Perez-Enciso,&nbsp;Paul B Siegel,&nbsp;Leif Andersson","doi":"10.1017/S0016672305007767","DOIUrl":"https://doi.org/10.1017/S0016672305007767","url":null,"abstract":"<p><p>Two growth-selected lines in chickens have been developed from a single founder population by divergent selection for body weight at 56 days of age. After more than 40 generations of selection they show a nine-fold difference in body weight at selection age and large differences in growth rate, appetite, fat deposition and metabolic characteristics. We have generated a large intercross between these lines comprising more than 800 F2 birds. QTL mapping revealed 13 loci affecting growth. The most striking observation was that the allele in the high weight line in all cases was associated with enhanced growth, but each locus explained only a small proportion of the phenotypic variance using a standard QTL model (1.3-3.1%). This result is in sharp contrast to our previous study where we reported that the two-fold difference in adult body size between the red junglefowl and White Leghorn domestic chickens is explained by a small number of QTLs with large additive effects. Furthermore, no QTLs for anorexia or antibody response were detected despite large differences for these traits between the founder lines. The result is an excellent example where a large phenotypic difference between populations occurs in the apparent absence of any single locus with large phenotypic effects. The study underscores the need for powerful experimental designs in genetic studies of multifactorial traits. No QTL at all would have reached genome-wide significance using a less powerful design (e.g. approx. 200 F2 individuals) regardless of the nine-fold phenotypic difference between the founder lines for the selected trait.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 2","pages":"115-25"},"PeriodicalIF":0.0,"publicationDate":"2005-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007767","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25751998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 121
A QTL analysis of female variation contributing to refractoriness and sperm competition in Drosophila melanogaster. 黑腹果蝇难愈性和精子竞争雌性变异的QTL分析。
Genetical research Pub Date : 2005-10-01 DOI: 10.1017/S0016672305007755
Mara K N Lawniczak, David J Begun
{"title":"A QTL analysis of female variation contributing to refractoriness and sperm competition in Drosophila melanogaster.","authors":"Mara K N Lawniczak,&nbsp;David J Begun","doi":"10.1017/S0016672305007755","DOIUrl":"https://doi.org/10.1017/S0016672305007755","url":null,"abstract":"<p><p>Sperm competition is an important fitness component in many animal groups. Drosophila melanogaster males exhibit substantial genetic variation for sperm competitive ability and females show considerable genetic variation for first versus second male sperm use. Currently, the forces responsible for maintaining genetic variation in sperm competition related phenotypes are receiving much attention. While several candidate genes contributing to the variation seen in male competitive ability are known, genes involved in female sperm use remain largely undiscovered. Without knowledge of the underlying genes, it will be difficult to distinguish between different models of sexual selection such as cryptic female choice and sexual conflict. We used quantitative trait locus (QTL) mapping to identify regions of the genome contributing to female propensity to use first or second male sperm, female refractoriness to re-mating, and early-life fertility. The most well supported markers influencing the phenotypes include 33F/34A (P2), 57B (refractoriness) and 23F/24A (fertility). Between 10% and 15% of the phenotypic variance observed in these recombinant inbred lines was explained by these individual QTLs. More detailed investigation of the regions detected in this experiment may lead to the identification of genes responsible for the QTLs identified here.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 2","pages":"107-14"},"PeriodicalIF":0.0,"publicationDate":"2005-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007755","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25752622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 18
A simulation study on detecting purging of inbreeding depression in captive populations. 圈养种群近交抑制检测清除的模拟研究。
Genetical research Pub Date : 2005-10-01 DOI: 10.1017/S001667230500772X
Elizabeth Boakes, Jinliang Wang
{"title":"A simulation study on detecting purging of inbreeding depression in captive populations.","authors":"Elizabeth Boakes,&nbsp;Jinliang Wang","doi":"10.1017/S001667230500772X","DOIUrl":"https://doi.org/10.1017/S001667230500772X","url":null,"abstract":"<p><p>Inbreeding depression threatens the survival of small populations of both captive and wild outbreeding species. In order to fully understand this threat, it is necessary to investigate what role purging plays in reducing inbreeding depression. Ballou (1997) undertook such an investigation on 25 mammalian populations, using an ancestral inbreeding regression model to detect purging. He concluded that there was a small but highly significant trend of purging on neonatal survival across the populations. We tested the performance of the regression model that Ballou used to detect purging on independently simulated data. We found that the model has low statistical power when inbreeding depression is caused by the build-up of mildly deleterious alleles. It is therefore possible that Ballou's study may have underestimated the effects of ancestral inbreeding on the purging of inbreeding depression in captive populations if their inbreeding depression was caused mainly by mildly deleterious mutations. We also developed an alternative regression model to Ballou's, which showed an improvement in the detection of purging of mildly deleterious alleles but performed less well if deleterious alleles were of a large effect.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 2","pages":"139-48"},"PeriodicalIF":0.0,"publicationDate":"2005-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S001667230500772X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25752000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 31
QTL-based evidence for the role of epistasis in evolution. 基于qtl的上位性在进化中的作用证据。
Genetical research Pub Date : 2005-10-01 DOI: 10.1017/S0016672305007780
Russell L Malmberg, Rodney Mauricio
{"title":"QTL-based evidence for the role of epistasis in evolution.","authors":"Russell L Malmberg,&nbsp;Rodney Mauricio","doi":"10.1017/S0016672305007780","DOIUrl":"https://doi.org/10.1017/S0016672305007780","url":null,"abstract":"<p><p>The extent to which epistasis contributes to adaptation and speciation has been a controversial topic in evolutionary genetics. One experimental approach to study epistasis is based on quantitative trait locus (QTL) mapping using molecular markers. Comparisons can be made among all possible pair-wise combinations of the markers, irrespective of whether an additive QTL is associated with a marker; several software packages have been developed that facilitate this. We review several examples of using this approach to identify epistatic QTLs for traits of evolutionary or ecological interest. While there is variability in the results, the number of epistatic QTL interactions is often greater than or equal to the number of additive QTLs. The magnitude of epistatic effects can be larger than the additive effects. Thus, epistatic interactions seem to be an important part of natural genetic variation. Future studies of epistatic QTLs could lead to descriptions of the genetic networks underlying variation for fitness-related traits.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 2","pages":"89-95"},"PeriodicalIF":0.0,"publicationDate":"2005-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007780","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25752620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 67
Mapping segregation distortion loci and quantitative trait loci for spikelet sterility in rice ( Oryza sativa L.). 水稻小穗不育性分离扭曲位点和数量性状位点的定位。
Genetical research Pub Date : 2005-10-01 DOI: 10.1017/S0016672305007779
Chunming Wang, Chengsong Zhu, Huqu Zhai, Jianmin Wan
{"title":"Mapping segregation distortion loci and quantitative trait loci for spikelet sterility in rice ( Oryza sativa L.).","authors":"Chunming Wang,&nbsp;Chengsong Zhu,&nbsp;Huqu Zhai,&nbsp;Jianmin Wan","doi":"10.1017/S0016672305007779","DOIUrl":"https://doi.org/10.1017/S0016672305007779","url":null,"abstract":"<p><p>Markers with segregation ratio distortion are commonly observed in data sets used for quantitative trait locus (QTL) mapping. In this study, a multipoint method of maximum likelihood (ML) was newly developed to estimate the positions and effects of the segregation distortion loci (SDLs) in two F2 populations of rice (Oryza sativa L.), i.e. Taichung65/Bhadua (TB; japonica-indica cross) and CPSLO17/W207-2 (CW; japonica-japonica). Of the four parents, W207-2 and Bhadua were found to be spikelet semi-sterile and stably inherited through selfing, and spikelet fertility segregated in the two populations. Therefore, recombination frequencies were recalculated after mapping the SDLs by using the multipoint method, and the molecular linkage maps of the two F2 populations were constructed to detect QTLs underlying spikelet fertility. As a result, five SDLs in the TB population were mapped on chromosomes 1, 3, 8 and 9, respectively. Two major QTLs underlying spikelet fertility, namely qSS-6a and qSS-8a, were detected on chromosomes 6 and 8, respectively. In the CW population, a total of 12 SDLs were detected on all 12 chromosomes except 1, 5, 7 and 11. Three QTLs underlying spikelet sterility, namely qSS-2, qSS-6b and qSS-8b on chromosomes 2, 6 and 8, were determined on the whole genome scale. Interestingly, both qSS-6a and qSS-6b, detected in the two F2 populations respectively, were located on a similar position as the S5 gene on chromosome 6; while qSS-8a and qSS-8b were also simultaneously detected on similar positions of the short arm of chromosome 8 in the two populations, which should be a new sterility gene showing the same type of zygotic selection.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 2","pages":"97-106"},"PeriodicalIF":0.0,"publicationDate":"2005-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007779","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25752621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 91
Statistical model for characterizing epistatic control of triploid endosperm triggered by maternal and offspring QTLs. 由母系和子代qtl触发的三倍体胚乳上位性控制的统计模型。
Genetical research Pub Date : 2005-08-01 DOI: 10.1017/S0016672305007615
Yuehua Cui, Rongling Wu
{"title":"Statistical model for characterizing epistatic control of triploid endosperm triggered by maternal and offspring QTLs.","authors":"Yuehua Cui,&nbsp;Rongling Wu","doi":"10.1017/S0016672305007615","DOIUrl":"https://doi.org/10.1017/S0016672305007615","url":null,"abstract":"<p><p>To study the effects of maternal and endosperm quantitative trait locus (QTL) interaction on endosperm development, we derive a two-stage hierarchical statistical model within the maximum-likelihood context, implemented with an expectation-maximization algorithm. A model incorporating both maternal and offspring marker information can improve the accuracy and precision of genetic mapping. Extensive simulations under different sampling strategies, heritability levels and gene action modes were performed to investigate the statistical properties of the model. The QTL location and parameters are better estimated when two QTLs are located at different intervals than when they are located at the same interval. Also, the additive effect of the offspring QTLs is better estimated than the additive effect of the maternal QTLs. The implications of our model for agricultural and evolutionary genetic research are discussed.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 1","pages":"65-75"},"PeriodicalIF":0.0,"publicationDate":"2005-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007615","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25611665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 14
Evaluation of linkage disequilibrium measures between multi-allelic markers as predictors of linkage disequilibrium between markers and QTL. 多等位基因标记间连锁不平衡测度作为标记与QTL连锁不平衡预测因子的评价。
Genetical research Pub Date : 2005-08-01 DOI: 10.1017/S001667230500769X
H Zhao, D Nettleton, M Soller, J C M Dekkers
{"title":"Evaluation of linkage disequilibrium measures between multi-allelic markers as predictors of linkage disequilibrium between markers and QTL.","authors":"H Zhao,&nbsp;D Nettleton,&nbsp;M Soller,&nbsp;J C M Dekkers","doi":"10.1017/S001667230500769X","DOIUrl":"https://doi.org/10.1017/S001667230500769X","url":null,"abstract":"<p><p>Effectiveness of marker-assisted selection (MAS) and quantitative trait loci (QTL) mapping using population-wide linkage disequilibrium (LD) between markers and QTL depends on the extent of LD and how it declines with distance in a population. Because marker-QTL LD cannot be observed directly, the objective of this study was to evaluate alternative measures of observable LD between multi-allelic markers as predictors of usable LD of multi-allelic markers with presumed biallelic QTL. Observable LD between marker pairs was evaluated using eight existing measures and one new measure. These consisted of two pooled and standardized measures of LD between pairs of alleles at two markers based on Lewontin's LD measure, two pooled measures of squared correlations between alleles, one standardized measure using Hardy-Weinberg heterozygosities, and four measures based on the chi-square statistic for testing for association between alleles at two loci. In simulated populations with a range of LD generated by drift and a range of marker polymorphism, marker-marker LD measured by a standardized chi-square statistic (denoted chi(2')) was found to be the best predictor of useable marker-QTL LD for a group of multi-allelic markers. Estimates of the level and decline of marker-marker LD with distance obtained from chi(2') were linearly and highly correlated with usable LD of those markers with QTL across population structures and marker polymorphism. Corresponding relationships were poorer for the other marker-marker LD measures. Therefore, when LD is generated by drift, chi(2') is recommended to quantify the amount and extent of usable LD in a population for QTL mapping and MAS based on multi-allelic markers.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 1","pages":"77-87"},"PeriodicalIF":0.0,"publicationDate":"2005-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S001667230500769X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25611666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 125
The clock gene period in the medfly Ceratitis capitata. 头角蝇的时钟基因周期。
Genetical research Pub Date : 2005-08-01 DOI: 10.1017/S0016672305007664
Gabriella M Mazzotta, Federica Sandrelli, Mauro A Zordan, Moyra Mason, Clara Benna, Paola Cisotto, Ezio Rosato, Charalambos P Kyriacou, Rodolfo Costa
{"title":"The clock gene period in the medfly Ceratitis capitata.","authors":"Gabriella M Mazzotta,&nbsp;Federica Sandrelli,&nbsp;Mauro A Zordan,&nbsp;Moyra Mason,&nbsp;Clara Benna,&nbsp;Paola Cisotto,&nbsp;Ezio Rosato,&nbsp;Charalambos P Kyriacou,&nbsp;Rodolfo Costa","doi":"10.1017/S0016672305007664","DOIUrl":"https://doi.org/10.1017/S0016672305007664","url":null,"abstract":"<p><p>We have isolated the clock gene period (per) from the medfly Ceratitis capitata, one of the most economically important insect pest species. The overall pattern of conserved, non-conserved and functional domains that are observed within dipteran and lepidopteran per orthologues is preserved within the coding sequence. Expression analysis from fly heads revealed a daily oscillation in per mRNA in both light : dark cycles and in constant darkness. However PER protein levels from head extracts did not show any significant evidence for cycling in either of these two conditions. When the Ceratitis per transgene under the control of the Drosophila per promoter and 3'UTR was introduced into Drosophila per -null mutant hosts, the transformants revealed a low level of rescue of behavioural rhythmicity. Nevertheless, the behaviour of the rhythmic transformants showed some similarities to that of ceratitis, suggesting that Ceratitis per carries species-specific information that can evidently affect the Drosophila host's downstream rhythmic behaviour.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"86 1","pages":"13-30"},"PeriodicalIF":0.0,"publicationDate":"2005-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672305007664","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25611661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 16
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