BMC Genetics最新文献

{"title":"Genetic diversity among early provitamin A quality protein maize inbred lines and the performance of derived hybrids under contrasting nitrogen environments.","authors":"Ebenezer Obeng-Bio, Baffour Badu-Apraku, Beatrice Elohor Ifie, Agyemang Danquah, Essie Takyiwaa Blay, Mustapha Abu Dadzie, Gilbert Tchala Noudifoulè, Abidemi Olutayo Talabi","doi":"10.1186/s12863-020-00887-7","DOIUrl":"10.1186/s12863-020-00887-7","url":null,"abstract":"<p><strong>Background: </strong>Information on population structure and genetic diversity of germplasm in a breeding programme is useful because it enhances judicious utilisation of genetic resources to achieve breeding objectives. Seventy early maturing provitamin A (PVA) quality protein maize (QPM) inbreds developed by the IITA- maize improvement programme were genotyped using 8171 DArTseq markers. Furthermore, 96 hybrids derived from 24 selected inbreds plus four checks were evaluated under low-N and optimal environments in Nigeria during 2016 and 2017. Genotypic and phenotypic data of inbreds and hybrids respectively, were analysed to (i) assess the level of genetic dissimilarities and population structure of the inbreds, and (ii) investigate the grain yield performance of derived hybrids under low-N, optimal and across environments.</p><p><strong>Results: </strong>Genetic diversity among the seventy inbreds was high varying from 0.042 to 0.500 with an average of 0.357. Sixty-six inbred lines with probabilities ≥0.70 were assigned to a single group. The population structure analysis, the UPGMA phylogeny, and the principal Coordinate Analysis (PCoA) of the DArTseq markers revealed a clear separation of five groups and each followed pedigree records. Clustered inbreds displayed common characteristics including high PVA levels, and drought and low-N tolerance. The top performing hybrid, TZEIORQ 40 × TZEIORQ 26 out-yielded the best hybrid control, TZEIOR 127 × TZEIOR 57 by 8, 3, and 9% under low-N, optimal, and across environments, respectively. High repeatability estimates were detected for grain yield under each and across environments. Similarly, high breeding efficiency of 71, 70 and 72% were computed under low-N, optimal, and across environments, respectively.</p><p><strong>Conclusions: </strong>The UPGMA clustering, the structure analysis, and the PCoA consistently revealed five groups which largely followed pedigree information indicating the existence of genetically distinct groups in the inbred lines. High repeatability and breeding efficiency values estimated for grain yield of hybrids under low-N, optimal and across environments demonstrated that high productive hybrids could be developed using inbreds from the opposing clusters identified by the DArTseq markers. The 15 top performing hybrids identified, particularly TZEIORQ 40 × TZEIORQ 26 and TZEIORQ 29 × TZEIORQ 43 should be further evaluated for release and commercialization in SSA.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"78"},"PeriodicalIF":2.9,"publicationDate":"2020-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38166881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide characterization of copy number variations in the host genome in genetic resistance to Marek's disease using next generation sequencing.","authors":"Hao Bai,&nbsp;Yanghua He,&nbsp;Yi Ding,&nbsp;Qin Chu,&nbsp;Ling Lian,&nbsp;Eliyahu M Heifetz,&nbsp;Ning Yang,&nbsp;Hans H Cheng,&nbsp;Huanmin Zhang,&nbsp;Jilan Chen,&nbsp;Jiuzhou Song","doi":"10.1186/s12863-020-00884-w","DOIUrl":"https://doi.org/10.1186/s12863-020-00884-w","url":null,"abstract":"<p><strong>Background: </strong>Marek's disease (MD) is a highly neoplastic disease primarily affecting chickens, and remains as a chronic infectious disease that threatens the poultry industry. Copy number variation (CNV) has been examined in many species and is recognized as a major source of genetic variation that directly contributes to phenotypic variation such as resistance to infectious diseases. Two highly inbred chicken lines, 6₃ (MD-resistant) and 7₂ (MD-susceptible), as well as their F₁ generation and six recombinant congenic strains (RCSs) with varied susceptibility to MD, are considered as ideal models to identify the complex mechanisms of genetic and molecular resistance to MD.</p><p><strong>Results: </strong>In the present study, to unravel the potential genetic mechanisms underlying resistance to MD, we performed a genome-wide CNV detection using next generation sequencing on the inbred chicken lines with the assistance of CNVnator. As a result, a total of 1649 CNV regions (CNVRs) were successfully identified after merging all the nine datasets, of which 90 CNVRs were overlapped across all the chicken lines. Within these shared regions, 1360 harbored genes were identified. In addition, 55 and 44 CNVRs with 62 and 57 harbored genes were specifically identified in line 6₃ and 7₂, respectively. Bioinformatics analysis showed that the nearby genes were significantly enriched in 36 GO terms and 6 KEGG pathways including JAK/STAT signaling pathway. Ten CNVRs (nine deletions and one duplication) involved in 10 disease-related genes were selected for validation by using quantitative real-time PCR (qPCR), all of which were successfully confirmed. Finally, qPCR was also used to validate two deletion events in line 7₂ that were definitely normal in line 6₃. One high-confidence gene, IRF2 was identified as the most promising candidate gene underlying resistance and susceptibility to MD in view of its function and overlaps with data from previous study.</p><p><strong>Conclusions: </strong>Our findings provide valuable insights for understanding the genetic mechanism of resistance to MD and the identified gene and pathway could be considered as the subject of further functional characterization.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"77"},"PeriodicalIF":2.9,"publicationDate":"2020-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00884-w","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38170577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic mapping of physiological traits associated with terminal stage drought tolerance in rice.","authors":"Saumya Ranjan Barik,&nbsp;Elssa Pandit,&nbsp;Shakti Prakash Mohanty,&nbsp;Deepak Kumar Nayak,&nbsp;Sharat Kumar Pradhan","doi":"10.1186/s12863-020-00883-x","DOIUrl":"https://doi.org/10.1186/s12863-020-00883-x","url":null,"abstract":"<p><strong>Background: </strong>Drought during reproductive stage is among the main abiotic stresses responsible for drastic reduction of grain yield in rainfed rice. The genetic mechanism of reproductive stage drought tolerance is very complex. Many physiological and morphological traits are associated with this stress tolerance. Robust molecular markers are required for detection and incorporation of these correlated physiological traits into different superior genetic backgrounds. Identification of gene(s)/QTLs controlling reproductive stage drought tolerance and its deployment in rainfed rice improvement programs are very important.</p><p><strong>Results: </strong>QTLs linked to physiological traits under reproductive stage drought tolerance were detected by using 190 F₇ recombinant inbred lines (RIL) mapping population of CR 143-2-2 and Krishnahamsa. Wide variations were observed in the estimates of ten physiological traits studied under the drought stress. The RIL population was genotyped using the bulk- segregant analysis (BSA) approach. A total of 77 SSR polymorphic markers were obtained from the parental polymorphisms survey of 401 tested primers. QTL analysis using inclusive composite interval mapping detected a total of three QTLs for the physiological traits namely relative chlorophyll content (qRCC1.1), chlorophyll a (qCHLa1.1), and proline content (qPRO3.1) in the studied RIL population. The QTL, qPRO3.1 is found to be a novel one showing LOD value of 13.93 and phenotypic variance (PVE) of 78.19%. The QTL was located within the marker interval of RM22-RM517 on chromosome 3. Another novel QTL, qRCC1.1 was mapped on chromosome 1 at a distance of 142.8 cM and found to control relative chlorophyll content during terminal drought stress. A third novel QTL was detected in the population that controlled chlorophyll a content (qCHLa1.1) under the terminal stress period. The QTL was located on chromosome 1 at a distance of 81.8 cM and showed 64.5% phenotypic variation.</p><p><strong>Conclusions: </strong>The three novel QTLs, qRCC1.1, qCHLa1.1 and qPRO3.1 controlling relative chlorophyll content, chlorophyll a and proline content, respectively were identified in the mapping population derived from CR 143-2-2 and Krishnahamsa. These 3 QTLs will be useful for enhancement of terminal drought stress tolerance through marker-assisted breeding approach in rice.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"76"},"PeriodicalIF":2.9,"publicationDate":"2020-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00883-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38153318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A database for ITS2 sequences from nematodes.","authors":"Matthew L Workentine,&nbsp;Rebecca Chen,&nbsp;Shawna Zhu,&nbsp;Stefan Gavriliuc,&nbsp;Nicolette Shaw,&nbsp;Jill de Rijke,&nbsp;Elizabeth M Redman,&nbsp;Russell W Avramenko,&nbsp;Janneke Wit,&nbsp;Jocelyn Poissant,&nbsp;John S Gilleard","doi":"10.1186/s12863-020-00880-0","DOIUrl":"https://doi.org/10.1186/s12863-020-00880-0","url":null,"abstract":"<p><strong>Background: </strong>Marker gene surveys have a wide variety of applications in species identification, population genetics, and molecular epidemiology. As these methods expand to new types of organisms and additional markers beyond 16S and 18S rRNA genes, comprehensive databases are a critical requirement for proper analysis of these data.</p><p><strong>Results: </strong>Here we present an ITS2 rDNA database for marker gene surveys of both free-living and parasitic nematode populations and the software used to build the database. This is currently the most complete and up-to-date ITS2 database for nematodes and is able to reproduce previous analysis that used a smaller database.</p><p><strong>Conclusions: </strong>This database is an important resource for researchers working on nematodes and also provides a tool to create ITS2 databases for any given taxonomy.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"74"},"PeriodicalIF":2.9,"publicationDate":"2020-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00880-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38140412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of candidate genes for milk production traits by RNA sequencing on bovine liver at different lactation stages.","authors":"Qian Li,&nbsp;Ruobing Liang,&nbsp;Yan Li,&nbsp;Yanxia Gao,&nbsp;Qiufeng Li,&nbsp;Dongxiao Sun,&nbsp;Jianguo Li","doi":"10.1186/s12863-020-00882-y","DOIUrl":"https://doi.org/10.1186/s12863-020-00882-y","url":null,"abstract":"<p><strong>Background: </strong>RNA-sequencing was performed to explore the bovine liver transcriptomes of Holstein cows to detect potential functional genes related to lactation and milk composition traits in dairy cattle. The bovine transcriptomes of the nine liver samples from three Holstein cows during dry period (50-d prepartum), early lactation (10-d postpartum), and peak of lactation (60-d postpartum) were sequenced using the Illumina HiSeq 2500 platform.</p><p><strong>Results: </strong>A total of 204, 147 and 81 differentially expressed genes (DEGs, p < 0.05, false discovery rate q < 0.05) were detected in early lactation vs. dry period, peak of lactation vs. dry period, and peak of lactation vs. early lactation comparison groups, respectively. Gene ontology and KEGG pathway analysis showed that these DEGs were significantly enriched in specific biological processes related to metabolic and biosynthetic and signaling pathways of PPAR, AMPK and p53 (p < 0.05). Ten genes were identified as promising candidates affecting milk yield, milk protein and fat traits in dairy cattle by using an integrated analysis of differential gene expression, previously reported quantitative trait loci (QTL), data from genome-wide association studies (GWAS), and biological function information. These genes were APOC2, PPP1R3B, PKLR, ODC1, DUSP1, LMNA, GALE, ANGPTL4, LPIN1 and CDKN1A.</p><p><strong>Conclusion: </strong>This study explored the complexity of the liver transcriptome across three lactation periods in dairy cattle by performing RNA sequencing. Integrated analysis of DEGs and reported QTL and GWAS data allowed us to find ten key candidate genes influencing milk production traits.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"72"},"PeriodicalIF":2.9,"publicationDate":"2020-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00882-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38137646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Production and verification of the first Atlantic salmon (Salmo salar L.) clonal lines.","authors":"Tom Johnny Hansen,&nbsp;David Penman,&nbsp;Kevin Alan Glover,&nbsp;Thomas William Kenneth Fraser,&nbsp;Tone Vågseth,&nbsp;Anders Thorsen,&nbsp;Anne Grete Eide Sørvik,&nbsp;Per Gunnar Fjelldal","doi":"10.1186/s12863-020-00878-8","DOIUrl":"https://doi.org/10.1186/s12863-020-00878-8","url":null,"abstract":"<p><strong>Background: </strong>In several fish species homozygous and heterozygous clonal lines have been produced using gynogenetic and androgenetic techniques. These lines are standardized and can be reproduced over generations. In rainbow trout such lines have existed for decades and has become important research tools in genome studies as well as in studies of commercially important traits. The Atlantic salmon is one of the best studied fish species globally, but all experiments are done on fish of wild or domesticated origin and access to standardized immortal fish lines would be of great benefit. Here, we describe the protocols developed to produce mitotic gynogenes, and from these the first clonal lines in Atlantic salmon.</p><p><strong>Results: </strong>Atlantic salmon eggs fertilized with UV irradiated sperm combined with a pressure shock applied at 4700-4800 minC at 8 °C gave all homozygous (doubled haploid) gynogenetic progeny with high survival. From the six first maturing females, five all homozygous clonal lines were produced by meiotic gynogenesis and were verified as clonal and identical to their mother with microsatellite markers.</p><p><strong>Conclusions: </strong>We have now produced the first documented cloned Atlantic salmon lines. This work demonstrates the potential for production of further Atlantic salmon clonal lines, potentially with distinct characteristics. Such lines will provide an important resource for further elucidation of phenotypic and genetic traits in this globally important species.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"71"},"PeriodicalIF":2.9,"publicationDate":"2020-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00878-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38134315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptome analysis of activated charcoal-induced growth promotion of wheat seedlings in tissue culture.","authors":"Fu-Shuang Dong,&nbsp;Meng-Yu Lv,&nbsp;Jin-Ping Wang,&nbsp;Xue-Ping Shi,&nbsp;Xin-Xia Liang,&nbsp;Yong-Wei Liu,&nbsp;Fan Yang,&nbsp;He Zhao,&nbsp;Jian-Fang Chai,&nbsp;Shuo Zhou","doi":"10.1186/s12863-020-00877-9","DOIUrl":"https://doi.org/10.1186/s12863-020-00877-9","url":null,"abstract":"<p><strong>Background: </strong>Activated charcoal (AC) is highly adsorbent and is often used to promote seedling growth in plant tissue culture; however, the underlying molecular mechanism remains unclear. In this study, root and leaf tissues of 10-day-old seedlings grown via immature embryo culture in the presence or absence of AC in the culture medium were subjected to global transcriptome analysis by RNA sequencing to provide insights into the effects of AC on seedling growth.</p><p><strong>Results: </strong>In total, we identified 18,555 differentially expressed genes (DEGs). Of these, 11,182 were detected in the roots and 7373 in the leaves. In seedlings grown in the presence of AC, 9460 DEGs were upregulated and 7483 DEGs were downregulated in the presence of AC as compared to the control. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis revealed 254 DEG-enriched pathways, 226 of which were common between roots and leaves. Further analysis of the major metabolic pathways revealed that AC stimulated the expression of nine genes in the phenylpropanoid biosynthesis pathway, including PLA, CYP73A, COMT, CYP84A, and 4CL, the protein products of which promote cell differentiation and seedling growth. Further, AC upregulated genes involved in plant hormone signaling related to stress resistance and disease resistance, including EIN3, BZR1, JAR1, JAZ, and PR1, and downregulated genes related to plant growth inhibition, including BKI1, ARR-B, DELLA, and ABF.</p><p><strong>Conclusions: </strong>Growth medium containing AC promotes seedling growth by increasing the expression of certain genes in the phenylpropanoid biosynthesis pathway, which are related to cell differentiation and seedling growth, as well as genes involved in plant hormone signaling, which is related to resistance.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"69"},"PeriodicalIF":2.9,"publicationDate":"2020-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00877-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38130498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhanced tolerance to Phytophthora root and stem rot by over-expression of the plant antimicrobial peptide CaAMP1 gene in soybean.","authors":"Lu Niu, Xiaofang Zhong, Yuanyu Zhang, Jing Yang, Guojie Xing, Haiyun Li, Dongbo Liu, Rui Ma, Yingshan Dong, Xiangdong Yang","doi":"10.1186/s12863-020-00872-0","DOIUrl":"10.1186/s12863-020-00872-0","url":null,"abstract":"<p><strong>Background: </strong>Antimicrobial peptides play important roles in both plant and animal defense systems. Moreover, over-expression of CaAMP1 (Capsicum annuum antimicrobial protein 1), an antimicrobial protein gene isolated from C. annuum leaves infected with Xanthomonas campestris pv. vesicatoria, confers broad-spectrum resistance to hemibiotrophic bacterial and necrotrophic fungal pathogens in Arabidopsis. Phytophthora root and stem rot (PRR), caused by the fungus Phytophthora sojae, is one of the most devastating diseases affecting soybean (Glycine max) production worldwide.</p><p><strong>Results: </strong>In this study, CaAMP1 was transformed into soybean by Agrobacterium-mediated genetic transformation. Integration of the foreign gene in the genome of transgenic soybean plants and its expression at the translation level were verified by Southern and western blot analyses, respectively. CaAMP1 over-expression (CaAMP1-OX) lines inoculated with P. sojae race 1 exhibited enhanced and stable PRR tolerance through T₂-T₄ generations compared with the wild-type Williams 82 plants. Gene expression analyses in the transgenic plants revealed that the expression of salicylic acid-dependent, jasmonic acid-dependent, and plant disease resistance genes (R-genes) were significantly up-regulated after P. sojae inoculation.</p><p><strong>Conclusions: </strong>These results indicate that CaAMP1 over-expression can significantly enhance PRR tolerance in soybean by eliciting resistance responses mediated by multiple defense signaling pathways. This provides an alternative approach for developing soybean varieties with improved tolerance against soil-borne pathogenic PRR.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"68"},"PeriodicalIF":2.9,"publicationDate":"2020-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00872-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38124256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A structural UGDH variant associated with standard Munchkin cats.","authors":"Ann-Kathrin Struck,&nbsp;Marina Braun,&nbsp;Kim Aline Detering,&nbsp;Peter Dziallas,&nbsp;Jasmin Neßler,&nbsp;Michael Fehr,&nbsp;Julia Metzger,&nbsp;Ottmar Distl","doi":"10.1186/s12863-020-00875-x","DOIUrl":"https://doi.org/10.1186/s12863-020-00875-x","url":null,"abstract":"<p><strong>Background: </strong>Munchkin cats were founded on a naturally occurring mutation segregating into long-legged and short-legged types. Short-legged cats showed disproportionate dwarfism (chondrodysplasia) in which all four legs are short and are referred as standard Munchkin cats. Long-legged animals are referred as non-standard Munchkin cats. A previous study using genome-wide single nucleotide polymorphisms (SNPs) for genome-wide association analysis identified a significantly associated region at 168-184 Mb on feline chromosome (FCA) B1.</p><p><strong>Results: </strong>In this study, we validated the critical region on FCA B1 using a case-control study with 89 cats and 14 FCA B1-SNPs. A structural variant within UGDH (NC_018726.2:g.173294289_173297592delins108, Felis catus 8.0, equivalent to NC_018726.3:g.174882895_174886198delins108, Felis catus 9.0) on FCA B1 was perfectly associated with the phenotype of short-legged standard Munchkin cats.</p><p><strong>Conclusion: </strong>This UGDH structural variant very likely causes the chondrodysplastic (standard) phenotype in Munchkin cats. The lack of homozygous mutant phenotypes and reduced litter sizes in standard Munchkin cats suggest an autosomal recessive lethal trait in the homozygote state. We propose an autosomal dominant mode of inheritance for the chondrodysplastic condition in Munchkin cats.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"67"},"PeriodicalIF":2.9,"publicationDate":"2020-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00875-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38107805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Design of experiments for fine-mapping quantitative trait loci in livestock populations.","authors":"Dörte Wittenburg, Sarah Bonk, Michael Doschoris, Henry Reyer","doi":"10.1186/s12863-020-00871-1","DOIUrl":"10.1186/s12863-020-00871-1","url":null,"abstract":"<p><strong>Background: </strong>Single nucleotide polymorphisms (SNPs) which capture a significant impact on a trait can be identified with genome-wide association studies. High linkage disequilibrium (LD) among SNPs makes it difficult to identify causative variants correctly. Thus, often target regions instead of single SNPs are reported. Sample size has not only a crucial impact on the precision of parameter estimates, it also ensures that a desired level of statistical power can be reached. We study the design of experiments for fine-mapping of signals of a quantitative trait locus in such a target region.</p><p><strong>Methods: </strong>A multi-locus model allows to identify causative variants simultaneously, to state their positions more precisely and to account for existing dependencies. Based on the commonly applied SNP-BLUP approach, we determine the z-score statistic for locally testing non-zero SNP effects and investigate its distribution under the alternative hypothesis. This quantity employs the theoretical instead of observed dependence between SNPs; it can be set up as a function of paternal and maternal LD for any given population structure.</p><p><strong>Results: </strong>We simulated multiple paternal half-sib families and considered a target region of 1 Mbp. A bimodal distribution of estimated sample size was observed, particularly if more than two causative variants were assumed. The median of estimates constituted the final proposal of optimal sample size; it was consistently less than sample size estimated from single-SNP investigation which was used as a baseline approach. The second mode pointed to inflated sample sizes and could be explained by blocks of varying linkage phases leading to negative correlations between SNPs. Optimal sample size increased almost linearly with number of signals to be identified but depended much stronger on the assumption on heritability. For instance, three times as many samples were required if heritability was 0.1 compared to 0.3. An R package is provided that comprises all required tools.</p><p><strong>Conclusions: </strong>Our approach incorporates information about the population structure into the design of experiments. Compared to a conventional method, this leads to a reduced estimate of sample size enabling the resource-saving design of future experiments for fine-mapping of candidate variants.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":" ","pages":"66"},"PeriodicalIF":2.9,"publicationDate":"2020-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38103653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}