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Drysdale_pheno_CSH
Drysdale_pheno_CSH

... browser where only relevant values for specific attribute are presented “statement builder” to assemble compound phenotype terms sequentially from vocabs. 2: Redundancy solver - would certain combinations be disallowed in statement builder? ...
Gene Section JAK2 (janus kinase 2) Atlas of Genetics and Cytogenetics
Gene Section JAK2 (janus kinase 2) Atlas of Genetics and Cytogenetics

... 25 exons spanning roughly 140 kb of genomic DNA; 5402 bp pre-mRNA; 6 different transcripts, putatively encoding 4 different protein isoforms. ...
How to report IG sequence data in clinical Richard Rosenquist Uppsala, Sweden
How to report IG sequence data in clinical Richard Rosenquist Uppsala, Sweden

... Strategy - only single unproductive rearrangement gDNA and cDNA: 1. Repeat the analysis. 2. Use an alternative set of primers. 3. If gDNA has been used, amplify instead using cDNA. 4. Repeat with a new sample. In most cases a productive rearrangement should be possible to amplify. If still only one ...
Mendel and Punnet Square Quiz - etec-510-2011
Mendel and Punnet Square Quiz - etec-510-2011

... b) Yellow offspring’s genotype is Yy because the offspring gets one “Y” allele from the yellow pea parent, and one “y” allele from the green pea parent. Yellow trait is indeed dominant as the f1 generations are all yellow in colour. c) Yellow offspring’s genotype cannot be YY due to the contribution ...
labs.bio.unc.edu
labs.bio.unc.edu

...  loss of perenniality  loss of outcrossing ...
PhenoLink - a web-tool for linking phenotype Lactobacillus plantarum strains
PhenoLink - a web-tool for linking phenotype Lactobacillus plantarum strains

... very large and noisy with many features (e.g., genes, metabolite abundances). Thus, associating phenotypes to ~omics data requires an approach that is robust to noise and can handle large and diverse data sets. Results: We developed a web-tool PhenoLink (http://bamics2.cmbi.ru.nl/websoftware/phenoli ...
Genetic Testing for Hereditary Breast and/or Ovarian Cancer
Genetic Testing for Hereditary Breast and/or Ovarian Cancer

a nine-base pair deletion distinguishes two en/spm
a nine-base pair deletion distinguishes two en/spm

... known since no detectable change occurred with the element (though the complete sequence of 8000+ bases had not been determined). Nevertheless, if enough exceptions were pursued via molecular analysis, a number of alterations might be anticipated in the vicinity of insertion sites. Whether there is ...
Inheritance of White Colour in Alpacas
Inheritance of White Colour in Alpacas

Mendel`s Principles of Heredity
Mendel`s Principles of Heredity

... in F1 p progeny g y is the dominant form • Trait that is hidden in the F1 progeny is the recessive form • Progeny inherit one unit from the maternal parent and the other unit from the paternal parent ...
Heredity and Development: Second Edition
Heredity and Development: Second Edition

... soon there were more of them than there were pairs of homologous chromosomes. This was the difficult moment for genetics and cytology that Sutton had predicted (page 78). The Prediction of Linkage. At the time Sutton proposed his hypothesis, he pointed out one situation in which the Mendelian laws c ...
The Genetics of CFTR: Genotype – Phenotype Relationship
The Genetics of CFTR: Genotype – Phenotype Relationship

... protein is degraded within the endoplasmic reticulum; a small proportion of it reaches however the apical membrane where it behaves as a class III mutation, with only a limited capacity to bind ATP. In addition, the F508del protein has shown a decreased stability and an enhanced degradation also in ...
Obesity — a genetic disease of adipose tissue?
Obesity — a genetic disease of adipose tissue?

... Although the rapid increase in the prevalence of obesity in many countries suggests that environmental factors (mainly overeating and physical inactivity) play the most important role in the development of overweight, it is very likely that genetic factors also contribute. It appears that one major ...
Advances in maize genomics: the emergence of positional cloning
Advances in maize genomics: the emergence of positional cloning

... that a 0.1 cM distance is contained on 1–2 BACs. If no BAC or BAC contig is available for a particular marker, or if one wishes to assemble a contig, a BAC library needs to be screened. The most widely used BAC library, ZMMBBb, consists of 247 680 clones, with an average insert size of 137 kb, that ...
1 RUNNING TITLE Diversity and selection of
1 RUNNING TITLE Diversity and selection of

... cerasiforme lines (Table S1). To evaluate whether fruit shape category and shape gene mutations were correlated to one another, we conducted a Chi-square test. The test corroborated the lack of independence between fruit shape categories and alleles of SUN, OVATE, LC, and FAS (χ2 = 790, df = 84, p < ...
Nerve activates contraction
Nerve activates contraction

... • Populations that have suffered bottleneck incidents have lost at least some alleles from the gene pool. • This reduces individual variation and adaptability. • For example, the genetic variation in the three small surviving wild populations of cheetahs is very low when compared to other mammals. ...
PDF - Oxford Academic - Oxford University Press
PDF - Oxford Academic - Oxford University Press

... dominant optic neuropathy but no spasticity linked to the SPG7 locus. We identified two SPG7 mutations in 23/134 spastic patients, 21% of the patients selected according to phenotype but only 8% of those referred directly. Our results confirm the pathogenicity of Ala510Val, which was the most freque ...
DNMT3A mutations occur early or late in patients with
DNMT3A mutations occur early or late in patients with

... (#81 and #25), 2 patients in whom this pattern was also observed had not received cytoreduction ...
Collagens, modifying enzymes and their mutations in humans, flies
Collagens, modifying enzymes and their mutations in humans, flies

X-linked
X-linked

When Phenotypes Do Not Match Genotypes—Unexpected
When Phenotypes Do Not Match Genotypes—Unexpected

... discussion, see Bańbura and Bakker 1995). Another explanation could be a recurrent mutation in the same modifying gene, leading to different expression of phenotypes, which is what was found for pelvic spines in stickleback (Chan et al. 2010). This may suggest that modifier genes are also important ...
UNUSUAL FLORAL ORGANS Controls Meristem ldentity and Organ
UNUSUAL FLORAL ORGANS Controls Meristem ldentity and Organ

... in the second whorl, although locules on petal-stamen mosaic organs could dehisce to produce pollen. Typical third whorl organs are represented in Figures 31 and 3J.The relative numbers and types of transformationsare listed in Table 2. The most frequent organs are filamentous. They are taller and t ...
Meiosis - Aurora City Schools
Meiosis - Aurora City Schools

RNA-guided gene drives can efficiently bias inheritance in wild yeast
RNA-guided gene drives can efficiently bias inheritance in wild yeast

... To verify that the ADE2 alleles from wild-type parents were indeed lost, we sporulated the mated diploids and examined their resultant haploid progeny. Upon dissecting 18 cas9+ diploids, we observed a perfect 4:0 ratio of red:cream haploids, confirming that all copies of the ADE2 locus were disrupte ...
Mutations affecting the cardiovascular system and other internal
Mutations affecting the cardiovascular system and other internal

... (Lyons et al., 1995). These findings suggest that the Drosophila system could be applied to studies on early heart morphogenic events. The fly and vertebrate heart development diverge soon after the primitive heart tube is formed. In contrast to the vertebrate, the fly heart has no endocardium, no v ...
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Epistasis



Epistasis is a phenomenon that consists of the effect of one gene being dependent on the presence of one or more 'modifier genes' (genetic background). Similarly, epistatic mutations have different effects in combination than individually. It was originally a concept from genetics but is now used in biochemistry, population genetics, computational biology and evolutionary biology. It arises due to interactions, either between genes, or within them leading to non-additive effects. Epistasis has a large influence on the shape of evolutionary landscapes which leads to profound consequences for evolution and evolvability of traits.
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