scholarly journals Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement

Genes ◽  
2020 ◽  
Vol 11 (7) ◽  
pp. 739 ◽  
Author(s):  
Dayna L. Dreger ◽  
Heidi Anderson ◽  
Jonas Donner ◽  
Jessica A. Clark ◽  
Arlene Dykstra ◽  
...  
Keyword(s):  
Additional Data ◽  
Coat Color ◽  
Genetic Research ◽  
Causal Variant ◽  
Signaling Protein ◽  
Testing Laboratories ◽  
Basic Color ◽  
Commercial Testing ◽  
Potential Impact ◽  
Variant Identification

Canine coat color is a readily observed phenotype of great interest to dog enthusiasts; it is also an excellent avenue to explore the mechanisms of genetics and inheritance. As such, multiple commercial testing laboratories include basic color alleles in their popular screening panels, allowing for the creation of genotyped datasets at a scale not before appreciated in canine genetic research. These vast datasets have revealed rare genotype anomalies that encourage further exploration of color and pattern inheritance. We previously reported the simultaneous presence of greater than two allele variants at the Agouti Signaling Protein (ASIP) locus in a commercial genotype cohort of 11,790 canids. Here we present additional data to characterize the occurrence of anomalous ASIP genotypes. We document the detection of combinations of three or four ASIP allele variants in 17 dog breeds and Dingoes, at within-breed frequencies of 1.32–63.34%. We analyze the potential impact on phenotype that these allele combinations present, and propose mechanisms that could account for the findings, including: gene recombination, duplication, and incorrect causal variant identification. These findings speak to the accuracy of industry-wide protocols for commercial ASIP genotyping and imply that ASIP should be analyzed via haplotype, rather than using only the existing allele hierarchy, in the future.

Paracelsus’ 16 th Century Philosophy Applied to Current Evolutionary Genetics

2017 ◽  
Author(s):  
Jenna Kewin
Keyword(s):  
Sixteenth Century ◽  
Intimate Relationships ◽  
Genetic Disease ◽  
Genetic Research ◽  
Evolutionary Genetics ◽  
Immunodeficiency Virus ◽  
Evolutionary Genetic ◽  
Health And Disease ◽  
Potential Impact ◽  
Selection For

Paracelsus contributed greatly to medical philosophy in the early sixteenth century, yet his reputation was so tainted by his hypocrisy that he left few followers and is often forgotten. Many aspects of his teachings, however, can be applied to current theories governing evolutionary genetic research. His claim, “Where diseases arise, one can also find the roots of health” hints at the intimate relationships between health and  disease that are the foundations of fascinating research. In many devastating medical cases, it has been  found that expression of one genetic disease can confer resistance for another. Sickle­cell anemia sufferers have an increased resistance to malaria, cystic fibrosis is associated with decreased susceptibility to  influenza, tuberculosis and cholera, and even the human immunodeficiency virus (HIV­1) is theorized to  have stemmed from a selection for resistance to the Bubonic Plague. These examples demonstrate the ambiguities in distinguishing between health and disease. While scientists today would likely scoff at Paracelsus’ dated medical rants, when they discover a disease favoured by natural selection, one of the first questions is how it could have conferred a benefit ancestrally. Applying Paracelsus’ theories to a discipline as contrary to evolutionary genetics demonstrates both the robustness of his claims, and the potential impact philosophy can have on medical, scientific and sociological questions surrounding challenging  epidemics

Copy Number Variation of Agouti Signaling Protein (ASIP) Fragment and its Relationship with Coat Color in Indonesian Goat Breeds

2016 ◽  
Vol 11 (11) ◽  
pp. 701-708 ◽  
Author(s):  
Suhendra Pakpahan ◽  
Rini Widayanti ◽  
Wayan Tunas Artama ◽  
I. Gede Suparta Budisatria
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Coat Color ◽  
Signaling Protein ◽  
Number Variation

scholarly journals Analysis of agouti signaling protein (ASIP) gene polymorphisms and association with coat color in Tibetan sheep (Ovis aries)

2015 ◽  
Vol 14 (1) ◽  
pp. 1200-1209 ◽  
Author(s):  
J.L. Han ◽  
M. Yang ◽  
Y.J. Yue ◽  
T.T. Guo ◽  
J.B. Liu ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Coat Color ◽  
Ovis Aries ◽  
Signaling Protein ◽  
Tibetan Sheep

scholarly journals Re-Ranking Sequencing Variants in the Post-GWAS Era for Accurate Causal Variant Identification

PLoS Genetics ◽  
2013 ◽  
Vol 9 (8) ◽  
pp. e1003609 ◽  
Author(s):  
Laura L. Faye ◽  
Mitchell J. Machiela ◽  
Peter Kraft ◽  
Shelley B. Bull ◽  
Lei Sun
Keyword(s):  
Causal Variant ◽  
Variant Identification

EXPRESS: Genetic Data: Potential Uses and Misuses in Marketing

2020 ◽  
pp. 002224292098076 ◽  
Author(s):  
Remi Daviet ◽  
Gideon Nave ◽  
Jerry Wind
Keyword(s):  
Genetic Research ◽  
Genetic Data ◽  
Business Strategies ◽  
Future Research ◽  
Ethical Challenges ◽  
Biological Mechanisms ◽  
Direct To Consumer ◽  
Potential Impact ◽  
Study Designs ◽  
Privately Owned

Advances in molecular genetics have led to the exponential growth of the direct-to-consumer genetic testing industry, resulting in the assembly of massive privately-owned genetic databases. This article explores the potential impact of this new data type on the field of marketing. Drawing on findings from behavioral genetic research, we propose a framework that incorporates genetic influences into existing consumer behavior theory, and use it to survey potential marketing uses of genetic data. Applications include business strategies that rely on genetic variants as bases for segmentation and targeting, creative uses that develop consumers’ sense of community and personalization, use of genetically informed study designs to test causal relations, and refinement of consumer theory by uncovering biological mechanisms underlying behavior. We further evaluate ethical challenges related to autonomy, privacy, misinformation and discrimination that are unique to the use of genetic data and are not sufficiently addressed by current regulations. We conclude by proposing an agenda for future research.

scholarly journals 70 years of research on the American mink (Neovison vison schreb., 1777) genetics - where are we now?

Genetika ◽  
2015 ◽  
Vol 47 (1) ◽  
pp. 357-373 ◽  
Author(s):  
Jakub Skorupski
Keyword(s):  
Molecular Genetics ◽  
Coat Color ◽  
American Mink ◽  
Genetic Research ◽  
Systematic Position ◽  
Neovison Vison ◽  
Natural Occurrence ◽  
Research Issues ◽  
Sequencing Project ◽  
Standard Karyotype

The purpose of this review is to present the current state of knowledge about the genetics of the American mink (Neovison vison Schreb., 1777) - a species that achieved in the twentieth century an unprecedented ecological success associated with the dynamic development of its economic use. However, despite the large popularity and economic importance of the American mink as a fur animal, and the scale of the problems associated with its introduction beyond the range of natural occurrence, genetic research, particularly molecular genetics and genomics of this species, show relatively little progress. The article contains a comprehensive description of the studies undertaken on the genetics of the species, both in terms of cytogenetics, molecular genetics, genomics, population genetics and phylogenetics. The progress of the genome sequencing project of the American mink is also described as well as its transcriptome annotation. The article also deals with still unexplained and not completed, despite 70 years of genetic research, issues such as the standard karyotype, the precise molecular basis of coat color inheritance and systematic position of the species.

Polymorphism of the Goat Agouti Signaling Protein Gene and Its Relationship with Coat Color in Italian and Spanish Breeds

2011 ◽  
Vol 49 (7-8) ◽  
pp. 523-532 ◽  
Author(s):  
B. Badaoui ◽  
M. D’Andrea ◽  
F. Pilla ◽  
J. Capote ◽  
A. Zidi ◽  
...  
Keyword(s):  
Protein Gene ◽  
Coat Color ◽  
Signaling Protein

scholarly journals A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse

2020 ◽  
Vol 111 (3) ◽  
pp. 287-293
Author(s):  
K Gary Magdesian ◽  
Jocelyn Tanaka ◽  
Rebecca R Bellone
Keyword(s):  
Protein Function ◽  
De Novo ◽  
Coat Color ◽  
Causal Variant ◽  
Color Pattern ◽  
De Novo Mutation ◽  
Nucleotide Polymorphisms ◽  
Helix Loop Helix ◽  
Blue Eyes

Abstract Splashed white is a coat color pattern in horses characterized by extensive white patterning on the legs, belly, and face often accompanied by blue eyes and deafness. Three mutations in microphthalmia-associated transcription factor (MITF) and two mutations in Paired Box 3 (PAX3) have been identified that explain splashed white patterns (SW1–SW5). An American Paint Horse stallion with a splashed white phenotype and blue eyes, whose parents were not white patterned, was negative for the 5 known splashed white variants and other known white spotting alleles. This novel splashed white phenotype (SW6) was hypothesized to be caused by a de novo mutation in MITF or PAX3. Analysis of whole-genome sequencing using the EquCab3.0 reference genome for comparison identified an 8.7 kb deletion in MITF on ECA16 (NC_009159.3:g.21551060-21559770del). The deletion encompassed part of intron 7 through the 3′ UTR of exon 9 of MITF, including the helix-loop-helix DNA-binding domain (ENSECAT00000006375.3). This variant is predicted to truncate protein and impair binding to DNA. Sanger sequencing confirmed the stallion was heterozygous for the MITF deletion. No single nucleotide polymorphisms (SNPs) or structural variants were identified in PAX3 or any of the other candidate genes that were unique to the stallion or predicted to affect protein function. Genotyping five of the stallion’s splashed white offspring, including one all white foal, found that they were also heterozygous for the deletion. Given the role of MITF in producing white pattern phenotypes, and the predicted deleterious effect of this mutation, this 8.7 kb deletion is the likely causal variant for SW6.

Influence of Testing Variables on the Concrete Compressive Strength

1975 ◽  
Vol 2 (4) ◽  
pp. 606-611
Author(s):  
T. Dale Rokosh ◽  
K. W. Nasser
Keyword(s):  
Compressive Strength ◽  
Compression Test ◽  
Minor Effect ◽  
Concrete Compressive Strength ◽  
Testing Laboratories ◽  
Concrete Mix ◽  
Commercial Testing ◽  
The Mean ◽  
A Minor ◽  
Good Rating

This study assessed the significance of testing variables due to casting, curing, and breaking standard concrete compression test cylinders in three Saskatoon, Saskatchewan commercial testing laboratories. Analysis of the results indicated that these variables have a minor effect on the results when the laboratories have a 'good' rating. Nonuniformity of the concrete mix itself seemed to have the greatest influence on the within-test variation and caused the mean compressive strength in each laboratory to differ by ±4% of the overall mean strength of the mix.

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