Genetica最新文献_第10页

Heritability: What's the point? What is it not for? A human genetics perspective. 遗传性:有什么意义?它不是用来干什么的?人类遗传学的观点。

IF 1.5 4区生物学

Genetica Pub Date : 2022-08-01 Epub Date: 2022-01-29 DOI: 10.1007/s10709-022-00149-7

Nicolas Robette, Emmanuelle Génin, Françoise Clerget-Darpoux

{"title":"Heritability: What's the point? What is it not for? A human genetics perspective.","authors":"Nicolas Robette, Emmanuelle Génin, Françoise Clerget-Darpoux","doi":"10.1007/s10709-022-00149-7","DOIUrl":"https://doi.org/10.1007/s10709-022-00149-7","url":null,"abstract":"In this paper, we explain the concept of heritability and describe the different methods and the genotype-phenotype correspondences used to estimate heritability in the specific field of human genetics. Heritability studies are conducted on extremely diverse human traits: quantitative traits (physical, biological, but also cognitive and behavioral measurements) and binary traits (as is the case of most human diseases). Instead of variables such as education and socio-economic status as covariates in genetic studies, they are now the direct object of genetic analysis. We make a review of the different assumptions underlying heritability estimates and dispute the validity of most of them. Moreover, and maybe more importantly, we show that they are very often misinterpreted. These erroneous interpretations lead to a vision of a genetic determinism of human traits. This vision is currently being widely disseminated not only by the mass media and the mainstream press, but also by the scientific press. We caution against the dangerous implication it has both medically and socially. Contrarily to the field of animal and plant genetics for which the polygenic model and the concept of heritability revolutionized selection methods, we explain why it does not provide answer in human genetics.","PeriodicalId":55121,"journal":{"name":"Genetica","volume":"150 3-4","pages":"199-208"},"PeriodicalIF":1.5,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39731666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

The genotype-phenotype distinction: from Mendelian genetics to 21st century biology. 基因型-表现型的区别:从孟德尔遗传学到21世纪生物学。

IF 1.5 4区生物学

Genetica Pub Date : 2022-08-01 Epub Date: 2022-07-25 DOI: 10.1007/s10709-022-00159-5

Gaëlle Pontarotti, Matteo Mossio, Arnaud Pocheville

{"title":"The genotype-phenotype distinction: from Mendelian genetics to 21st century biology.","authors":"Gaëlle Pontarotti, Matteo Mossio, Arnaud Pocheville","doi":"10.1007/s10709-022-00159-5","DOIUrl":"https://doi.org/10.1007/s10709-022-00159-5","url":null,"abstract":"The Genotype-Phenotype (G-P) distinction was proposed in the context of Mendelian genetics, in the wake of late nineteenth century studies about heredity. In this paper, we provide a conceptual analysis that highlights that the G-P distinction was grounded on three pillars: observability, transmissibility, and causality. Originally, the genotype is the non-observable and transmissible cause of its observable and non-transmissible effect, the phenotype. We argue that the current developments of biology have called the validity of such pillars into question. First, molecular biology has unveiled the putative material substrate of the genotype (qua DNA), making it an observable object. Second, numerous findings on non-genetic heredity suggest that some phenotypic traits can be directly transmitted. Third, recent organicist approaches to biological phenomena have emphasized the reciprocal causality between parts of a biological system, which notably applies to the relation between genotypes and phenotypes. As a consequence, we submit that the G-P distinction has lost its general validity, although it can still apply to specific situations. This calls for forging new frameworks and concepts to better describe heredity and development.","PeriodicalId":55121,"journal":{"name":"Genetica","volume":" ","pages":"223-234"},"PeriodicalIF":1.5,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40623939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Special issue on "The relationship between genotype and phenotype: new insight into an old question". “基因型与表现型的关系:一个老问题的新认识”特刊。

IF 1.5 4区生物学

Genetica Pub Date : 2022-08-01 Epub Date: 2022-07-25 DOI: 10.1007/s10709-022-00153-x

Dominique de Vienne, Pierre Capy

引用次数: 0

Associating complex traits with genetic variants: polygenic risk scores, pleiotropy and endophenotypes. 将复杂性状与遗传变异联系起来:多基因风险评分、多效性和内表型。

IF 1.5 4区生物学

Genetica Pub Date : 2022-08-01 Epub Date: 2021-10-22 DOI: 10.1007/s10709-021-00138-2

Gene S Fisch

{"title":"Associating complex traits with genetic variants: polygenic risk scores, pleiotropy and endophenotypes.","authors":"Gene S Fisch","doi":"10.1007/s10709-021-00138-2","DOIUrl":"https://doi.org/10.1007/s10709-021-00138-2","url":null,"abstract":"Genotype-phenotype causal modeling has evolved significantly since Johannsen's and Wright's original designs were published. The development of genomewide assays to interrogate and detect possible causal variants associated with complex traits has expanded the scope of genotype-phenotype research considerably. Clusters of causal variants discovered by genomewide assays and associated with complex traits have been used to develop polygenic risk scores to predict clinical diagnoses of multidimensional human disorders. However, genomewide investigations have met with many challenges to their research designs and statistical complexities which have hindered the reliability and validity of their predictions. Findings linked to differences in heritability estimates between causal clusters and complex traits among unrelated individuals remain a research area of some controversy. Causal models developed from case-control studies as opposed to experiments, as well as other issues concerning the genotype-phenotype causal model and the extent to which various forms of pleiotropy and the concept of the endophenotype add to its complexity, will be reviewed.","PeriodicalId":55121,"journal":{"name":"Genetica","volume":"150 3-4","pages":"183-197"},"PeriodicalIF":1.5,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39540455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to: What is a phenotype? History and new developments of the concept. 更正:什么是表现型?历史和新发展的概念。

IF 1.5 4区生物学

Genetica Pub Date : 2022-08-01 DOI: 10.1007/s10709-021-00144-4

Dominique de Vienne

引用次数: 0

Using phenotypic plasticity to understand the structure and evolution of the genotype-phenotype map. 利用表型可塑性了解基因型-表型图谱的结构和进化。

IF 1.3 4区生物学

Genetica Pub Date : 2022-08-01 Epub Date: 2021-10-06 DOI: 10.1007/s10709-021-00135-5

Luis-Miguel Chevin, Christelle Leung, Arnaud Le Rouzic, Tobias Uller

{"title":"Using phenotypic plasticity to understand the structure and evolution of the genotype-phenotype map.","authors":"Luis-Miguel Chevin, Christelle Leung, Arnaud Le Rouzic, Tobias Uller","doi":"10.1007/s10709-021-00135-5","DOIUrl":"10.1007/s10709-021-00135-5","url":null,"abstract":"Deciphering the genotype-phenotype map necessitates relating variation at the genetic level to variation at the phenotypic level. This endeavour is inherently limited by the availability of standing genetic variation, the rate of spontaneous mutation to novo genetic variants, and possible biases associated with induced mutagenesis. An interesting alternative is to instead rely on the environment as a source of variation. Many phenotypic traits change plastically in response to the environment, and these changes are generally underlain by changes in gene expression. Relating gene expression plasticity to the phenotypic plasticity of more integrated organismal traits thus provides useful information about which genes influence the development and expression of which traits, even in the absence of genetic variation. We here appraise the prospects and limits of such an environment-for-gene substitution for investigating the genotype-phenotype map. We review models of gene regulatory networks, and discuss the different ways in which they can incorporate the environment to mechanistically model phenotypic plasticity and its evolution. We suggest that substantial progress can be made in deciphering this genotype-environment-phenotype map, by connecting theory on gene regulatory network to empirical patterns of gene co-expression, and by more explicitly relating gene expression to the expression and development of phenotypes, both theoretically and empirically.","PeriodicalId":55121,"journal":{"name":"Genetica","volume":"150 3-4","pages":"209-221"},"PeriodicalIF":1.3,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39492513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chromosomal distribution of major rDNA and genome size variation in Belostoma angustum Lauck, B. nessimiani Ribeiro & Alecrim, and B. sanctulum Montandon (Insecta, Heteroptera, Belostomatidae) Belostoma angustum Lauck、B. nessimiani Ribeiro & Alecrim和B. sanctulum Montandon主要rDNA的染色体分布及基因组大小差异(昆虫科，异翅目，Belostomatidae)

IF 1.5 4区生物学

Genetica Pub Date : 2022-05-11 DOI: 10.1007/s10709-022-00156-8

Cassiane Furlan Lopes, Alice Lemos Costa, J. F. Dionísio, Andres Delgado Cañedo, R. da Rosa, Analía Del Valle Garnero, José Ricardo Inacio Ribeiro, R. J. Gunski

引用次数: 1

Identification of a 5-gene-risk score model for predicting luminal A-invasive lobular breast cancer survival 预测腔a浸润性小叶乳腺癌症生存率的5基因风险评分模型的确定

IF 1.5 4区生物学

Genetica Pub Date : 2022-05-10 DOI: 10.1007/s10709-022-00157-7

Yi-Huan Chen, Taofeng Zhang, Yiyuan Liu, Jiehua Zheng, Weixun Lin, Yaokun Chen, Jiehui Cai, Juan Zou, Zhiyang Li

引用次数: 2

The species of Oxytropis DC. of section Gloeocephala Bunge (Fabaceae) from Northeast Asia: genetic diversity and relationships based on sequencing of the intergenic spacers of cpDNA and ITS nrDNA. 棘豆属植物。基于cpDNA和ITS - nrDNA基因间间隔序列的遗传多样性和亲缘关系。

IF 1.5 4区生物学

Genetica Pub Date : 2022-04-01 Epub Date: 2022-02-25 DOI: 10.1007/s10709-022-00152-y

Alla Kholina, Marina Kozyrenko, Elena Artyukova, Valentin Yakubov, Mariya Khoreva, Elena Andrianova, Olga Mochalova, Denis Sandanov

{"title":"The species of Oxytropis DC. of section Gloeocephala Bunge (Fabaceae) from Northeast Asia: genetic diversity and relationships based on sequencing of the intergenic spacers of cpDNA and ITS nrDNA.","authors":"Alla Kholina, Marina Kozyrenko, Elena Artyukova, Valentin Yakubov, Mariya Khoreva, Elena Andrianova, Olga Mochalova, Denis Sandanov","doi":"10.1007/s10709-022-00152-y","DOIUrl":"https://doi.org/10.1007/s10709-022-00152-y","url":null,"abstract":"Phylogenetic relationships within Oxytropis DC. sect. Gloeocephala Bunge from Northeast Asia were studied using plastid intergenic spacers (psbA-trnH + trnL-trnF + trnS-trnG) and ITS nrDNA. Populations of O. anadyrensis Vass., O. borealis DC., O. middendorffii Trautv., O. trautvetteri Meinsh., and O. vasskovskyi Jurtz. were monomorphic or characterised by a low level of chloroplast genetic diversity (h varied from 0.143 to 0.692, and π from 0.0001 to 0.0005). Presumably, the low genetic diversity was a result of the severe bottlenecks during Pleistocene glaciation-interglacial cycles. Twenty chlorotypes were identified; species studied had no shared chlorotypes. Chlorotypes of O. anadyrensis, O. borealis, and O. middendorffii formed two lineages each, while the chlorotypes of O. trautvetteri and O. vasskovskyi formed one separate lineage each in the phylogenetic network. There were specific diagnostic markers of cpDNA in each lineage, excluding O. vasskovskyi. The presence of a species-specific diagnostic marker in O. trautvetteri and specific markers in two lineages of O. anadyrensis support circumscribing these taxa as independent species. Regarding ITS nrDNA polymorphism, five ribotypes were detected. The differences revealed in plastid and nuclear genomes of Oxytropis sect. Gloeocephala confirmed that the Asian sector of Megaberingia was the main centre of diversification of arctic legumes.","PeriodicalId":55121,"journal":{"name":"Genetica","volume":"150 2","pages":"117-128"},"PeriodicalIF":1.5,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39960648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Comprehensive analysis of codon usage pattern in Withania somnifera and its associated pathogens: Meloidogyne incognita and Alternaria alternata 酒藤及其伴生病原菌黑花霉和互花霉密码子使用模式的综合分析

IF 1.5 4区生物学

Genetica Pub Date : 2022-04-01 DOI: 10.1007/s10709-022-00154-w

J. Chandan, Suruchi Gupta, V. Babu, Deepika Singh, Ravail Singh

引用次数: 8