scholarly journals Molecular analysis reveals a genetic basis for the phenotypic diversity of metaplastic breast carcinomas

2010 ◽  
Vol 220 (5) ◽  
pp. 562-573 ◽  
Author(s):  
Felipe C Geyer ◽  
Britta Weigelt ◽  
Rachael Natrajan ◽  
Maryou BK Lambros ◽  
Dario de Biase ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Genetic Basis ◽  
Phenotypic Diversity ◽  
Breast Carcinomas

scholarly journals Candidate genes and SNPs associated with stomatal conductance under drought stress in Vitis

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Massimiliano Trenti ◽  
Silvia Lorenzi ◽  
Pier Luigi Bianchedi ◽  
Daniele Grossi ◽  
Osvaldo Failla ◽  
...  
Keyword(s):  
Drought Stress ◽  
Stomatal Conductance ◽  
Candidate Genes ◽  
Water Deficit ◽  
Genetic Basis ◽  
Phenotypic Diversity ◽  
Snp Array ◽  
A Genome ◽  
Raffinose Synthase ◽  
Response To Water

Abstract Background Understanding the complexity of the vine plant’s response to water deficit represents a major challenge for sustainable winegrowing. Regulation of water use requires a coordinated action between scions and rootstocks on which cultivars are generally grafted to cope with phylloxera infestations. In this regard, a genome-wide association study (GWAS) approach was applied on an ‘ad hoc’ association mapping panel including different Vitis species, in order to dissect the genetic basis of transpiration-related traits and to identify genomic regions of grape rootstocks associated with drought tolerance mechanisms. The panel was genotyped with the GrapeReSeq Illumina 20 K SNP array and SSR markers, and infrared thermography was applied to estimate stomatal conductance values during progressive water deficit. Results In the association panel the level of genetic diversity was substantially lower for SNPs loci (0.32) than for SSR (0.87). GWAS detected 24 significant marker-trait associations along the various stages of drought-stress experiment and 13 candidate genes with a feasible role in drought response were identified. Gene expression analysis proved that three of these genes (VIT_13s0019g03040, VIT_17s0000g08960, VIT_18s0001g15390) were actually induced by drought stress. Genetic variation of VIT_17s0000g08960 coding for a raffinose synthase was further investigated by resequencing the gene of 85 individuals since a SNP located in the region (chr17_10,497,222_C_T) was significantly associated with stomatal conductance. Conclusions Our results represent a step forward towards the dissection of genetic basis that modulate the response to water deprivation in grape rootstocks. The knowledge derived from this study may be useful to exploit genotypic and phenotypic diversity in practical applications and to assist further investigations.

Molecular analysis of INK4 genes in breast carcinomas

1997 ◽  
Author(s):  
K Spirin ◽  
J Simpson ◽  
C Miller ◽  
H Koeffler
Keyword(s):  
Molecular Analysis ◽  
Breast Carcinomas

scholarly journals Extreme developmental instability associated with wing plasticity in pea aphids

2020 ◽  
Vol 287 (1937) ◽  
pp. 20201349
Author(s):  
Rachel E. Hammelman ◽  
Carrie L. Heusinkveld ◽  
Emily T. Hung ◽  
Alydia Meinecke ◽  
Benjamin J. Parker ◽  
...  
Keyword(s):  
Developmental Biology ◽  
Genetic Basis ◽  
Phenotypic Diversity ◽  
Evolutionary Developmental Biology ◽  
Developmental Instability ◽  
Wing Development ◽  
Alternative Phenotypes ◽  
Fitness Consequences ◽  
Pea Aphids ◽  
Widespread Phenomenon

A key focus of evolutionary developmental biology is on how phenotypic diversity is generated. In particular, both plasticity and developmental instability contribute to phenotypic variation among genetically identical individuals, but the interactions between the two phenomena and their general fitness impacts are unclear. We discovered a striking example of asymmetry in pea aphids: the presence of wings on one side and the complete or partial absence of wings on the opposite side. We used this asymmetric phenotype to study the connection between plasticity, developmental instability and fitness. We found that this asymmetric wing development (i) occurred equally on both sides and thus is a developmental instability; (ii) is present in some genetically unique lines but not others, and thus has a genetic basis; and (iii) has intermediate levels of fecundity, and thus does not necessarily have negative fitness consequences. We conclude that this dramatic asymmetry may arise from incomplete switching between developmental targets, linking plasticity and developmental instability. We suspect that what we have observed may be a more widespread phenomenon, occurring across species that routinely produce distinct, alternative phenotypes.

scholarly journals The genetic architecture of phenotypic diversity in the betta fish (Betta splendens)

2021 ◽  
Author(s):  
Wanchang Zhang ◽  
Hongru Wang ◽  
Debora Yoshihara Caldeira Brandt ◽  
Beijuan Hu ◽  
Junqing Sheng ◽  
...  
Keyword(s):  
Wild Species ◽  
Genetic Architecture ◽  
Genetic Basis ◽  
Genetic Model ◽  
Phenotypic Diversity ◽  
Betta Splendens ◽  
Multiple Traits ◽  
High Quality ◽  
And Behavior ◽  
High Quality Genome

The Betta fish displays a remarkable variety of phenotypes selected during domestication. However, the genetic basis underlying these traits remain largely unexplored. Here, we report a high-quality genome assembly and re-sequencing of 727 individuals representing diverse morphologies of the betta fish. We show that current breeds have a complex domestication history with extensive introgression with wild species. Using GWAS, we identify the genetic basis of multiple traits, including several coloration phenotypes, sex-determination which we map to DMRT1, and the long-fin phenotype which maps to KCNJ15. We identify a polygenic signal related to aggression with many similarities to human psychiatric traits, involving genes such as CACNB2 and DISC1. Our study provides a resource for developing the Betta fish as a genetic model for morphology and behavior in vertebrates.

Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism

2016 ◽  
Vol 29 (5) ◽  
Author(s):  
Shao-Gang Ma ◽  
Xiao Zheng ◽  
Ya-Li Qiu ◽  
Man-Li Guo ◽  
Xiao-Juan Shao
Keyword(s):  
Molecular Analysis ◽  
Congenital Hypothyroidism ◽  
Genetic Basis ◽  
Compound Heterozygous ◽  
Dual Oxidase ◽  
Compound Heterozygous Mutations ◽  
Inactivating Mutations

AbstractThe objective of the study was to determine the genetic basis of goitrous congenital hypothyroidism (GCH) in Chinese siblings.The proband and her younger brother with GCH were enrolled for molecular analysis of the dual oxidase 2 (Analysis of theThe inactivating mutations (c.2422delT and p.T561M) in the

scholarly journals A shared genetic basis of mimicry across swallowtail butterflies points to ancestral co-option of doublesex

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Daniela H. Palmer ◽  
Marcus R. Kronforst
Keyword(s):  
Genetic Basis ◽  
Phenotypic Diversity ◽  
Single Gene ◽  
Wing Pattern ◽  
Ancestral Polymorphism ◽  
Independent Evolution ◽  
Pattern Diversity ◽  
Shared Ancestry ◽  
Swallowtail Butterflies ◽  
Species Specific

AbstractUncovering whether convergent adaptations share a genetic basis is consequential for understanding the evolution of phenotypic diversity. This information can help us understand the extent to which shared ancestry or independent evolution shape adaptive phenotypes. In this study, we first ask whether the same genes underlie polymorphic mimicry in Papilio swallowtail butterflies. By comparing signatures of genetic variation between polymorphic and monomorphic species, we then investigate how ancestral variation, hybridization, and independent evolution contributed to wing pattern diversity in this group. We report that a single gene, doublesex (dsx), controls mimicry across multiple taxa, but with species-specific patterns of genetic differentiation and linkage disequilibrium. In contrast to widespread examples of phenotypic evolution driven by introgression, our analyses reveal distinct mimicry alleles. We conclude that mimicry evolution in this group was likely facilitated by ancestral polymorphism resulting from early co-option of dsx as a mimicry locus, and that evolutionary turnover of dsx alleles may underlie the wing pattern diversity of extant polymorphic and monomorphic lineages.

scholarly journals Molecular evolution of luciferase diversified bioluminescent signals in sea fireflies

2020 ◽  
Author(s):  
Nicholai M. Hensley ◽  
Emily A. Ellis ◽  
Nicole Y. Leung ◽  
John Coupart ◽  
Alexander Mikhailovsky ◽  
...  
Keyword(s):  
Amino Acid ◽  
Genetic Basis ◽  
Phenotypic Diversity ◽  
Single Gene ◽  
Purifying Selection ◽  
Acid Sites ◽  
Evolutionary Processes ◽  
Major Question ◽  
Evolutionary Diversification ◽  
Evolutionary Forces

AbstractUnderstanding the genetic causes of evolutionary diversification is challenging because differences across species are complex, often involving many genes. However, cases where single or few genetic loci affect a feature that varies dramatically across a radiation of species would provide tractable opportunities to understand the genetics of diversification. Here, we show the diversification of bioluminescent signals in cypridinid ostracods (“sea fireflies”) to be strongly influenced by a single gene, cypridinid-luciferase. We find different evolutionary processes, including selection, drift, and constraint, each acted on c-luciferase at different times during evolutionary history and impacted different phenotypes, diversifying behavioral signals across species. In particular, some amino acid sites in c-luciferase evolved under episodic diversifying selection, and are associated significantly with phenotypic changes in both enzyme kinetics and color, which impact signals directly. We also find that multiple other amino acid positions in c-luciferase evolved neutrally or under purifying selection and may have impacted the variation of color of bioluminescent signals across genera. This work provides a rare glimpse into the genetic basis of diversification across many species, showing how multiple evolutionary processes may act at different times during a radiation of species to diversify phenotypes. These results indicate not only selection but also drift and constraint may be important evolutionary drivers of species diversification.Significance statementA hallmark of life is its astounding diversity. While we are beginning to understand the drivers of biodiversity, uncovering the genetic basis remains challenging. As such, how different molecular evolutionary processes act to diversify phenotypes is a major question in biology. Here we show a single gene to be important in a riotous diversity of fantastical behaviors - the bioluminescent signals of sea fireflies - allowing us to demonstrate multiple evolutionary forces including selection, drift, and constraint contributed to diversification. Our work highlights that not only selection but also neutral processes and constraint have each worked at different times to shape phenotypic diversity.

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