scholarly journals Identification of Genomic Characteristics and Selective Signals in a Du’an Goat Flock

Animals ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 994
Author(s):  
Qiuming Chen ◽  
Zihao Wang ◽  
Junli Sun ◽  
Yingfei Huang ◽  
Quratulain Hanif ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Selective Sweep ◽  
Farm Animals ◽  
Nucleotide Polymorphisms ◽  
Effective Population ◽  
Adaptive Traits ◽  
Gene Set Enrichment ◽  
Single Nucleotide ◽  
Immune Resistance ◽  
Goat Flock

The Du’an goat is one of the most important farm animals in the Guangxi Autonomous Region of China, but the genetic basis underlying its adaptive traits has still not been investigated. Firstly, in this study, the genomes of 15 Du’an goats from a breeding farm were sequenced (mean depth: 9.50X) to analyze the patterns of genetic variation. A comparable diversity (17.3 million single nucleotide polymorphisms and 2.1 million indels) was observed to be associated with a lower runs of homozygosity-based inbreeding coefficient and smaller effective population size in comparison with other breeds. From selective sweep and gene set enrichment analyses, we revealed selective signals related to adaptive traits, including immune resistance (serpin cluster, INFGR1, TLR2, and immune-related pathways), body size (HMGA2, LCOR, ESR1, and cancer-related pathways) and heat tolerance (MTOR, ABCG2, PDE10A, and purine metabolism pathway). Our findings uncovered the unique diversity at the genomic level and will provide the opportunities for improvement of productivity in the Du’an goat.

scholarly journals A Major Genome Region Underlying Artemisinin Resistance in Malaria

Science ◽  
2012 ◽  
Vol 336 (6077) ◽  
pp. 79-82 ◽  
Author(s):  
Ian H. Cheeseman ◽  
Becky A. Miller ◽  
Shalini Nair ◽  
Standwell Nkhoma ◽  
Asako Tan ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Selective Sweep ◽  
Strong Association ◽  
Artemisinin Resistance ◽  
Parasite Clearance ◽  
Nucleotide Polymorphisms ◽  
Two Phase ◽  
Single Nucleotide ◽  
Genome Region ◽  
Major Genome

Evolving resistance to artemisinin-based compounds threatens to derail attempts to control malaria. Resistance has been confirmed in western Cambodia and has recently emerged in western Thailand, but is absent from neighboring Laos. Artemisinin resistance results in reduced parasite clearance rates (CRs) after treatment. We used a two-phase strategy to identify genome region(s) underlying this ongoing selective event. Geographical differentiation and haplotype structure at 6969 polymorphic single-nucleotide polymorphisms (SNPs) in 91 parasites from Cambodia, Thailand, and Laos identified 33 genome regions under strong selection. We screened SNPs and microsatellites within these regions in 715 parasites from Thailand, identifying a selective sweep on chromosome 13 that shows strong association (P = 10−6 to 10−12) with slow CRs, illustrating the efficacy of targeted association for identifying the genetic basis of adaptive traits.

scholarly journals Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 658 ◽  
Author(s):  
Kumiko V. Nishiyama ◽  
Yoko Satta ◽  
Jun Gojobori
Keyword(s):  
Reading Disability ◽  
Reading Ability ◽  
Genetic Basis ◽  
Selective Sweep ◽  
Chinese Characters ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Asian Populations ◽  
Snp Data ◽  
Candidate Target

Dyslexia, or reading disability, is found to have a genetic basis, and several related genes have been reported. We investigated whether natural selection has acted on single nucleotide polymorphisms (SNPs) that were reported to be associated with risk/non-risk for the reading disability of Chinese characters. We applied recently developed 2D SFS-based statistics to SNP data of East Asian populations to examine whether there is any sign of selective sweep. While neutrality was not rejected for most SNPs, significant signs of selection were detected for two linkage disequilibrium (LD) regions containing the reported SNPs of GNPTAB and DCDC2. Furthermore, we searched for a selection target site among the SNPs in these LD regions, because a causal site is not necessarily a reported SNP but could instead be a tightly linked site. In both LD regions, we found candidate target sites, which may have an effect on expression regulation and have been selected, although which genes these SNPs affect remains unknown. Because most people were not engaged in reading until recently, it is unlikely that there has been selective pressure on reading ability itself. Consistent with this, our results suggest a possibility of genetic hitchhiking, whereby alleles of the reported SNPs may have increased in frequency together with the selected target, which could have functions for other genes and traits apart from reading ability.

scholarly journals Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2689
Author(s):  
Augusto Anguita-Ruiz ◽  
Concepción M. Aguilera ◽  
Ángel Gil
Keyword(s):  
Genetic Basis ◽  
Human Populations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Genetic Mechanisms ◽  
Visualization Tools ◽  
Available Information ◽  
Static World ◽  
Interactive Resources

In humans the ability to digest milk lactose is conferred by a β-galactosidase enzyme called lactase-phlorizin hydrolase (LPH). While in some humans (approximately two-thirds of humankind) the levels of this enzyme decline drastically after the weaning phase (a trait known as lactase non-persistence (LNP)), some other individuals are capable of maintaining high levels of LPH lifelong (lactase persistence (LP)), thus being able to digest milk during adulthood. Both lactase phenotypes in humans present a complex genetic basis and have been widely investigated during the last decades. The distribution of lactase phenotypes and their associated single nucleotide polymorphisms (SNPs) across human populations has also been extensively studied, though not recently reviewed. All available information has always been presented in the form of static world maps or large dimension tables, so that it would benefit from the newly available visualization tools, such as interactive world maps. Taking all this into consideration, the aims of the present review were: (1) to gather and summarize all available information on LNP and LP genetic mechanisms and evolutionary adaptation theories, and (2) to create online interactive world maps, including all LP phenotype and genotype frequency data reported to date. As a result, we have created two online interactive resources, which constitute an upgrade over previously published static world maps, and allow users a personalized data exploration, while at the same time accessing complete reports by population or ethnicity.

scholarly journals Genomic analysis unveils important aspects of population structure, virulence, and antimicrobial resistance inKlebsiella aerogenes

2019 ◽  
Author(s):  
Hemanoel Passarelli-Araujo ◽  
Jussara K. Palmeiro ◽  
Kanhu C. Moharana ◽  
Francisnei Pedrosa-Silva ◽  
Libera M. Dalla-Costa ◽  
...  
Keyword(s):  
Population Structure ◽  
Genomic Analysis ◽  
Genomic Diversity ◽  
Nucleotide Polymorphisms ◽  
Effective Population ◽  
Single Nucleotide ◽  
Deleterious Alleles ◽  
Large Effective Population Size ◽  
Healthcare Associated ◽  
Antibiotic Efflux

ABSTRACTKlebsiella aerogenesis an important pathogen in healthcare-associated infections. Nevertheless, in comparison to other clinically important pathogens,K. aerogenespopulation structure, genetic diversity, and pathogenicity remain poorly understood. Here, we elucidateK. aerogenesclonal complexes (CCs) and genomic features associated with resistance and virulence. We present a detailed description of the population structure ofK. aerogenesbased on 97 publicly available genomes by using both, multilocus sequence typing and single nucleotide polymorphisms extracted from core genome. We also assessed virulence and resistance profiles using VFDB and CARD, respectively. We show thatK. aerogeneshas an open pangenome and a large effective population size, which account for its high genomic diversity and support that negative selection prevents fixation of most deleterious alleles. The population is structured in at least ten CCs, including two novel ones identified here, CC9 and CC10. The repertoires of resistance genes comprise a high number of antibiotic efflux proteins as well as narrow and extended spectrum β-lactamases. Regarding the population structure, we identified two clusters based on virulence profile due to the presence of the toxin-encodingclboperon and the siderophore production genes,irpandybt.Notably, CC3 comprises the majority ofK. aerogenesisolates associated with hospital outbreaks, emphasizing the importance of its constant monitoring. Collectively, our results can be useful in the development of new therapeutic and surveillance strategies worldwide.

scholarly journals Identification of root rot resistance QTLs in pea using Fusarium solani f. sp. pisi-responsive differentially expressed genes

2020 ◽  
Author(s):  
Bruce A. Williamson-Benavides ◽  
Richard Sharpe ◽  
Grant Nelson ◽  
Eliane T. Bodah ◽  
Lyndon D. Porter ◽  
...  
Keyword(s):  
Differentially Expressed Genes ◽  
Fusarium Solani ◽  
Root Rot ◽  
Genetic Basis ◽  
Gene Pyramiding ◽  
Interval Mapping ◽  
Differentially Expressed ◽  
Nucleotide Polymorphisms ◽  
Resistance Qtls ◽  
Single Nucleotide

AbstractPisum sativum (pea) yields have declined significantly over the last decades, predominantly due to susceptibility to root rot diseases. One of the main causal agents of root rot is the fungus Fusarium solani f. sp. pisi (Fsp), leading to yield losses ranging from 15 to 60%. Determining and subsequently incorporating the genetic basis for resistance in new cultivars offers one of the best solutions to control this pathogen; however, no green-seeded pea cultivars with complete resistance to Fsp have been identified. To date, only partial levels of resistance to Fsp has been identified among pea genotypes. SNPs mined from Fsp-responsive differentially expressed genes (DEGs) identified in a preceding study were utilized to identify QTLs associated with Fsp resistance using composite interval mapping in two recombinant inbred line (RIL) populations segregating for partial root rot resistance. A total of 769 DEGs with single nucleotide polymorphisms (SNPs) were identified, and the putative SNPs were evaluated for being polymorphic across four partially resistant and four susceptible P. sativum genotypes. The SNPs with validated polymorphisms were used to screen two RIL populations using two phenotypic criteria: root disease severity and plant height. One QTL, WB.Fsp-Ps 5.1 that mapped to chromosome V explained 14.76 % of the variance with a confidence interval of 10.36 cM. The other four QTLs located on chromosomes II, III, and V, explained 5.26–8.05 % of the variance. The use of SNPs derived from Fsp-responsive DEGs for QTL mapping proved to be an efficient way to identify molecular markers associated with Fsp resistance in pea. These QTLs are potential candidates for marker-assisted selection and gene pyramiding to obtain high levels of partial resistance in pea cultivars to combat root rot caused by Fsp.

scholarly journals Genomic Determinants of Hypertension With a Focus on Metabolomics and the Gut Microbiome

2020 ◽  
Vol 33 (6) ◽  
pp. 473-481
Author(s):  
Panayiotis Louca ◽  
Cristina Menni ◽  
Sandosh Padmanabhan
Keyword(s):  
Blood Pressure ◽  
Genetic Basis ◽  
Salt Water ◽  
Nucleotide Polymorphisms ◽  
Pressure Regulation ◽  
Single Nucleotide ◽  
Multiple Factors ◽  
Single Marker ◽  
Genomic Studies ◽  
Diet And Lifestyle

Abstract Epidemiologic and genomic studies have progressively improved our understanding of the causation of hypertension and the complex relationship with diet and environment. The majority of Mendelian forms of syndromic hypotension and hypertension (HTN) have all been linked to mutations in genes whose encoded proteins regulate salt–water balance in the kidney, supporting the primacy of the kidneys in blood pressure regulation. There are more than 1,477 single nucleotide polymorphisms associated with blood pressure and hypertension and the challenge is establishing a causal role for these variants. Hypertension is a complex multifactorial phenotype and it is likely to be influenced by multiple factors including interactions between diet and lifestyle factors, microbiome, and epigenetics. Given the finite genetic variability that is possible in humans, it is likely that incremental gains from single marker analyses have now plateaued and a greater leap in our understanding of the genetic basis of disease will come from integration of other omics and the interacting environmental factors. In this review, we focus on emerging results from the microbiome and metabolomics and discuss how leveraging these findings may facilitate a deeper understanding of the interrelationships between genomics, diet, and microbial ecology in humans in the causation of essential hypertension.

A systematic study of single-nucleotide polymorphisms in theA4GALTgene suggests a molecular genetic basis for the P1/P2blood groups

Transfusion ◽  
2014 ◽  
Vol 54 (12) ◽  
pp. 3222-3231 ◽  
Author(s):  
Yin-Ju Lai ◽  
Wan-Yi Wu ◽  
Chen-Ming Yang ◽  
Li-Rong Yang ◽  
Chen-Chung Chu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Systematic Study ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Molecular Genetic Basis

scholarly journals Genomic descriptors of biodiversity – A review

2018 ◽  
Vol 69 (2) ◽  
pp. 73-83 ◽  
Author(s):  
Gábor Mészáros
Keyword(s):  
Genetic Diversity ◽  
Nucleotide Polymorphisms ◽  
Negative Consequences ◽  
Effective Population ◽  
Single Nucleotide ◽  
Diversity Assessment ◽  
Wide Range ◽  
Core Concepts

Summary The characterization of livestock genetic diversity has experienced extensive changes with the availability of dense nucleotide markers. Among the various forms of markers, the single nucleotide polymorphisms (SNP) have arguably the largest influence. A wide range of indicators for the assessment of genetic diversity was developed, or the existing methods were improved, enabling us to make informed decisions on the management of livestock populations. This review discusses the selected aspects of diversity assessment, with special attention to the SNP based methods. One of the core concepts in genomics of diversity is the linkage disequilibrium (LD), as it was shaped by demographic events during the development of breeds and species. These events, either natural or artificial, left detectable signals within the livestock genomes. Further changes were induced by human activity when mating related animals, leading to fixing or improving the desired traits in the breed, but reducing their genetic variability. The assessment of relatedness is also pivotal to construct meaningful mating plans and to avoid the negative consequences of inbreeding depression that might be detrimental especially in small, endangered populations. Both LD and relatedness are of interest on their own, as well as in their follow-up applications deriving overall measures of effective population size.

scholarly journals The genetic basis of the human-cannabis relationship

2018 ◽  
Author(s):  
Philippe Henry
Keyword(s):  
Genetic Basis ◽  
Genome Wide Association Study ◽  
Diagnostic Process ◽  
Nucleotide Polymorphisms ◽  
Phenotypic Data ◽  
Single Nucleotide ◽  
Web Based ◽  
Genome Wide ◽  
A Genome ◽  
Shed Light

AbstractCannabis can elicit various reactions in different consumers. In order to shed light on the mechanisms underlying the human-cannabis relationship, we begin to investigate the genetic basis of this differential response. The web-based platform OpenSNP was used to collect selfreported genetic and phenotypic data. Participants either reported a positively or negative affinity to cannabis. A total of 26 individuals were retained, 10 of which indicated several negative responses and the remaining 16 indicating strong affinity for Cannabis. A total of 325’895 single nucleotide polymorphisms (SNPs) were retained. The software TASSEL 5 was used to run a genome-wide association study (GWAS), with a generalized liner model (GLM) and1000 permutations. The analysis yielded a set of 45 SNPs that were significantly associated with the reported affinity to cannabis, including one strong outlier found in the MYO16 gene. A diagnostic process is proposed by which individuals can be assessed for their affinity to cannabis. We believe this type of tool may be helpful in alleviating some of the stigma associated with cannabis use in individuals sensitive to THC and other cannabis constituents such as myrcene, which may potentiate negative responses.

Sign in / Sign up

Export Citation Format

Share Document