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Preprint ARTICLE | doi:10.20944/preprints201908.0284.v4

Hyperbolic Numbers in Modeling Genetic Phenomena

Sergey Petoukhov

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: hyperbolic numbers; matrix; eigenvectors; genetics; Punnett squares; Fibonacci numbers; phyllotaxis; music harmony; literary texts; doubly stochastic matrices

Online: 13 April 2020 (11:04:05 CEST)

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Preprint ARTICLE | doi:10.20944/preprints202003.0356.v1

Initial Review and Analysis of COVID-19 Host Genetics and Associated Phenotypes

Yosuke Tanigawa, Manuel Rivas

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: COVID-19; SARS-CoV-2; host genetics; genetics; polygenic risk score

Online: 24 March 2020 (08:36:20 CET)

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Preprint REVIEW | doi:10.20944/preprints202003.0027.v1

Sometimes Hidden but Always There: Assumptions Behind Demographic Inference from Ancient DNA Data

Liisa Loog

Subject: Arts And Humanities, Archaeology Keywords: Population genetics; Statistical modelling; Demographic modelling; Ancient DNA; Population history; Archaeology

Online: 2 March 2020 (15:17:14 CET)

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Preprint REVIEW | doi:10.20944/preprints202002.0048.v1

Genetic Factors of Nitric Oxide’s System in Psychoneurologic Disorders

Regina F. Nasyrova, Polina V. Moskaleva, Elene E. Vaiman, Natalya A. Shnayder, Nataliya L. Blatt, Albert A. Rizvanov

Subject: Medicine And Pharmacology, Psychiatry And Mental Health Keywords: NO; NOS; genetics; nitric oxide; nitric oxide synthase; oxidative stress; pathogenesis; mental disorders, neurological diseases

Online: 4 February 2020 (11:06:10 CET)

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Preprint REVIEW | doi:10.20944/preprints202001.0332.v1

Fish Transcriptomics: Applied to Our Understanding of Aquaculture

Joseph Heras

Subject: Biology And Life Sciences, Agricultural Science And Agronomy Keywords: transcriptomics; aquaculture; genetics; next generation sequencing

Online: 28 January 2020 (05:10:55 CET)

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New challenges arise in the face of global climate change which impact every ecosystem on earth, including aquatic systems. This is evident in observations made in regard to the world’s oceans, which show trends of incremental changes in ocean surface temperatures, sea levels, and ocean acidity. These environmental shifts impact human resources such as fisheries and aquaculture. In addition, according to the World Bank, the increase in human population will also require more food and nutrient production, which include industries such as aquaculture. With this increasing demand in aquaculture and fisheries, we must develop efficient and productive methods to operate these industries. We can use genetic methods, specifically transcriptomic information to better understand the biology of our source of nutrition. With the advent of RNASeq techniques, we can provide a better understanding about growth and development, immune function and stress, and adaptations. The use of population genetics or (genomics) to detect Single Nucleotide Polymorphisms (SNPs) between populations or closely related species can provide greater insight from stock structure to fishery-induced evolution. In addition, candidate loci can be investigated further to better understanding evolutionary processes, which provide clues on physiological adaptations and gene expression patterns that can help elucidate how these organisms respond to their current environment. In addition, the use of transcriptomic analyses such as differential gene expression can be used to determine resilience in various environmental conditions such as pollution, hypoxic/anoxic conditions, fluctuations in salinity, and temperature extremes. There has been an increase in transcriptomic studies for many aquaculture species, which has aimed at improving our understanding of growth, development, and metabolism, providing vital information for fisheries and aquaculture industries to make adjustments to environmental conditions such as oxygen availability, nutrition, and salinity. All of these aspects provide insightful information for advancing our knowledge of aquaculture, fisheries and conservation management.

Preprint BRIEF REPORT | doi:10.20944/preprints202001.0280.v1

Knockout of the Murine Ortholog to the Human 9p21 Coronary Artery Disease Locus Leads to SMC Proliferation, Vascular Calcification, and Advanced Atherosclerosis

Yoko Kojima, Jianqin Ye, Vivek Nanda, Ying Wang, Alyssa M. Flores, Kai-Uwe Jarr, Pavlos Tsantilas, Liang Guo, Aloke V. Finn, Renu Virmani, Nicholas Leeper

Subject: Medicine And Pharmacology, Cardiac And Cardiovascular Systems Keywords: atherosclerosis; vascular biology; calcification; genetics; 9p21

Online: 24 January 2020 (11:17:21 CET)

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Background: Genome-wide association studies have identified the chromosome 9p21 locus as one of the most important genetic risk factors for cardiovascular disease. However, the mechanism by which this locus promotes disease remains unclear due to difficulty identifying the causal genes and lack of a suitable animal model. Methods and Results: A total of 180 coronary artery autopsy specimens were analyzed histopathologically. The genotype of 9p21 (rs1333049) was not associated with any coronary risk factors nor the vulnerable plaque phenotype, but carriers of 9p21 risk allele did demonstrate more lesional calcification. To extend these studies into an animal model, mice with a targeted deletion of the orthologous 70-kb non-coding interval on chromosome 4 (chr4^D70kb/^D70kb) were bred onto ApoE^-/- and fed with high fat diet. Targeted deletion of the 9p21 risk interval increased susceptibility to atherosclerotic plaque progression, but did not affect plaque rupture in the tandem stenosis model. Coronary risk factors such as body weight, blood pressure, lipid, and glucose levels did not differ between genotypes. Von Kossa staining revealed that chr4^D70kb/^D70kb, ApoE^-/- developed more calcification in the plaque compared with chr4^+/⁺, ApoE^-/- mice, and that this this change was accompanied by increased aortic mRNA expression of Runx2, a key osteogenic transcription factor. Primarily cultured smooth muscle cells from chr4^D70kb/^D70kb were hyperproliferative, and showed a calcification-prone phenotype after exposure to high-phosphate medium. Treatment with Palbociclib, a selective inhibitor of cyclin-dependent kinase 4/6, reduced mRNA expression of osteogenic genes in smooth muscle cells. Conclusion: Results from human and mouse studies indicate that the 9p21 non coding risk interval is associated with larger atherosclerotic plaque burden, but not with plaque rupture. 9p21 may promote lesion expansion by inducing the proliferation of de-differentiated and osteogenic smooth muscle cells.

Preprint ARTICLE | doi:10.20944/preprints201912.0368.v1

Mediator of DNA Damage Checkpoint Protein 1 Facilitates V(D)J Recombination in Cells Lacking DNA Repair Factor XLF

Carole Beck, Sergio Castañeda-Zegarra, Camilla Huse, Mengtan Xing, Valentyn Oksenych

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: V(D)J recombination; vAbl cells; B lymphocytes; mouse genetics; genetic interaction

Online: 29 December 2019 (04:36:17 CET)

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Preprint REVIEW | doi:10.20944/preprints201911.0300.v1

Next Generation Biological Control: The Need for Integrating Genetics and Evolution

Kelley Leung, Erica Ras, Kim Ferguson, Simone Ariëns, Dirk Babendreier, Piter Bijma, Kostas Bourtzis, Jacques Brodeur, Margreet Bruins, Alejandra Centurión, Sophie Chattington, Milena Chinchilla-Ramírez, Marcel Dicke, Nina Fatouros, Joel González Cabrera, Thomas Groot, Tim Haye, Markus Knapp, Panagioata Koskinioti, Sophie Le Hesran, Manolis Lirakis, Angeliki Paspati, Meritxell Pérez-Hedo, Wouter Plouvier, Christian Schlötterer, Judith Stahl, Andra Thiel, Alberto Urbaneja, Louis van de Zande, Eveline Verhulst, Louise Vet, Sander Visser, John Werren, Shuwen Xia, Bas Zwaan, Sara Magalhães, Leo Beukeboom, Bart Pannebakker

Subject: Biology And Life Sciences, Insect Science Keywords: artificial selection; biological control; genetics; genome assembly; genomics; insect breeding; microbiome; modelling

Online: 24 November 2019 (17:10:31 CET)

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Preprint ARTICLE | doi:10.20944/preprints201910.0373.v1

The Hidden Story on Heterogeneous B-raf V600E Mutation Quantitative Protein Expression in Metastatic Melanoma – Association with Clinical Outcome and Tumor Phenotypes

Lazaro Hiram Betancourt, A. Marcell Szasz, Magdalena Kuras, Jimmy Rodriguez Murillo, Yutaka Sugihara, Indira Pla, Zsolt Horvath, Krzysztof Pawlowski, Melinda Rezeli, Kenichi Miharada, Jeovanis Gil, Jonatan Eriksson, Roger Appelqvist, Tasso Militois, Bo Baldetorp, Christian Ingvar, Håkan Olsson, Lotta Lundgren, Peter Horvatovich, Charlotte Welinder, Elisabet Wieslander, Ho Jeong Kwon, Johan Malm, Istvan Balazs Nemeth, Göran Jönsson, David Fenyo, Aniel Sanchez, György Marko-Varga

Subject: Medicine And Pharmacology, Oncology And Oncogenics Keywords: malignant melanoma; BRAF V600E mutation; proteomics; mass spectrometry genetics; heterogeneity; prognosis

Online: 31 October 2019 (10:36:32 CET)

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Preprint ARTICLE | doi:10.20944/preprints201908.0227.v1

Atypical Dermatophytosis in 12 North American Porcupines (Erethizon dorsatum) from the Northeastern United States 2010-2017

David Needle, Robert Gibson, Nicholas Hollingshead, Inga Sidor, Nicholas Marra, Derek Rothenheber, Anil Thachil, Bryce Stanhope, Brian Stevens, Julie Ellis, Shelley Spanswick, Maureen Murray, Laura Goodman

Subject: Biology And Life Sciences, Animal Science, Veterinary Science And Zoology Keywords: dermatophyte; porcupine; Erethizon, fungus; metagenomics; fungal genetics; molecular diagnostics

Online: 21 August 2019 (12:58:19 CEST)

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Preprint REVIEW | doi:10.20944/preprints201906.0178.v1

Evaluation of the Genomic Basis for Alzheimer’s and Parkinson’s Diseases

Pratip Rana, Edian F. Franco, Yug Rao, Khajamoinuddin Syed, Debmalya Barh, Vasco Azevedo, Rommel T. J. Ramos, Preetam Ghosh

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Alzheimer's disease; Parkinson's disease; genetics; gene regulatory network; miRNAs

Online: 18 June 2019 (13:07:49 CEST)

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Preprint REVIEW | doi:10.20944/preprints201905.0130.v1

Fast Neutron Mutagenesis in Plants: Advances, Applicability and Challenges

Surbhi Kumawat, Nitika Rana, Ruchi Bansal, Gautam Vishwakarma, Sayaji Mehetre, Bikram Kishore Das, Manish Kumar, Satish Yadav, Humira Sonah, Tilak Raj Sharma, Rupesh Deshmukh

Subject: Biology And Life Sciences, Plant Sciences Keywords: induced mutagenesis; fast neutron irradiation; mutation mapping; deletagene; next-generation sequencing technologies; reverse genetics

Online: 10 May 2019 (14:38:21 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201903.0115.v1

On to the Next Chapter for Crop Breeding: Convergence with Data Science

Elhan S. Ersoz, Nicolas F. Martin, Ann E. Stapleton

Subject: Computer Science And Mathematics, Artificial Intelligence And Machine Learning Keywords: machine learning; agroclimactic modelling; crop breeding and genetics; GxE

Online: 11 March 2019 (07:59:22 CET)

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Preprint ARTICLE | doi:10.20944/preprints201902.0048.v1

Beyond Biodiversity: Can Environmental DNA (eDNA) Cut It as a Population Genetics Tool?

Clare Adams, Michael Knapp, Neil J. Gemmell, Gert-Jan Jeunen, Michael Bunce, Miles Lamare, Helen R. Taylor

Subject: Biology And Life Sciences, Ecology, Evolution, Behavior And Systematics Keywords: sampling methodology; mtDNA; mitochondrial DNA; conservation; biodiversity; populations; genetics

Online: 5 February 2019 (10:03:54 CET)

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Preprint REVIEW | doi:10.20944/preprints201812.0200.v1

MicroRNA cross-involvement in Autism Spectrum Disorders and Atopic Dermatitis: a literature review

Alessandro Tonacci, Gianluca Bagnato, Gianluca Pandolfo, Lucia Billeci, Francesco Sansone, Raffaele Conte, Sebastiano Gangemi

Subject: Medicine And Pharmacology, Neuroscience And Neurology Keywords: Allergy; Autistic Disorder; Dermatitis; Genetics; Immunity; MicroRNAs

Online: 17 December 2018 (15:53:35 CET)

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Preprint REVIEW | doi:10.20944/preprints201812.0140.v1

Association of the CYP17 (T-34C) Polymorphism and the Risk of Acne Vulgaris: A Meta-Analysis

Mazaher Ramezani, Elisa Zavattaro, Masoud Sadeghi

Subject: Medicine And Pharmacology, Dermatology Keywords: acne; polymorphism; genetics; CYP17; ethnicity

Online: 12 December 2018 (05:30:43 CET)

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Preprint ARTICLE | doi:10.20944/preprints201811.0440.v1

A Preliminary Study on Single Nucleotide Polymorphisms (SNPs) in SPP1 Gene with Higher Threat of Urolithiasis in Victims from West Bengal, India

Manalee Guha, Hritwick Banerjee, Dilip Kumar Pal, Madhusudan Das

Subject: Biology And Life Sciences, Animal Science, Veterinary Science And Zoology Keywords: kidney tissue; renal failure; human genetics; eastern part of India

Online: 19 November 2018 (10:01:55 CET)

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Preprint ARTICLE | doi:10.20944/preprints201810.0028.v1

Association of a Multi-Gene Panel with Blood Pressure Medication Success in Patients with Hypertension: A Pilot Study

Eric Snyder, Ryan Sprissler, Micah Johnson, Greg Beenken, Timothy Curry, Nicholas Cassuto, Eli Kelley, Thomas Olson

Subject: Medicine And Pharmacology, Cardiac And Cardiovascular Systems Keywords: Hypertension; Blood pressure; Genetics; Pharmacogenetics; Pharmacotherapy; Treatment

Online: 2 October 2018 (15:02:46 CEST)

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Preprint REVIEW | doi:10.20944/preprints201809.0418.v1

Ethnic Considerations for Glaucoma: A Review

Matt Bawn

Subject: Biology And Life Sciences, Immunology And Microbiology Keywords: Glaucoma, Genetics, Ethnicity

Online: 20 September 2018 (16:11:29 CEST)

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Preprint COMMUNICATION | doi:10.20944/preprints201809.0299.v1

Molecular Approach to the Identification and Phylogenetic Biogeography of Snail Telescopium telescopium Using mt-COI Gene Sequences

Satheesh Kumar Palanisamy, Prasanna Kumar Chinnamani, Purushothaman Paramasivam, Umamaheswari Sundaresan

Subject: Biology And Life Sciences, Ecology, Evolution, Behavior And Systematics Keywords: barcoding; biodiversity; genetics; mollusc; phylogeny; snails; taxonomy

Online: 17 September 2018 (10:30:16 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201808.0539.v1

Genotype Fingerprints Enable Fast and Private Comparison of Genetic Testing Results for Research and Direct-to-Consumer Applications

Max Robinson, Gustavo Glusman

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: computational genomics; genome comparison; algorithms; genetic testing; privacy; direct-to-consumer; study design; population genetics

Online: 31 August 2018 (04:59:28 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201808.0529.v1

S1 Subunit of Spike Protein from a Current Highly Virulent Porcine Epidemic Diarrhea Virus is an Important Determinant of Virulence in Piglets

Tohru Suzuki, Yutaka Terada, Luis Enjuanes, Seiichi Ohashi, Wataru Kamitani

Subject: Medicine And Pharmacology, Veterinary Medicine Keywords: orcine epidemic diarrhea virus; coronavirus; spike protein; virulence; gnotobiotic piglets; reverse genetics

Online: 30 August 2018 (14:35:03 CEST)

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Preprint REVIEW | doi:10.20944/preprints201808.0224.v1

Aging and Disability: The Need of A Bridge To Promote Wellbeing, Quality Of Life And Participation

Donatella Rita Petretto, Luca Gaviano, Lorenzo Pili, Roberto Pili

Subject: Social Sciences, Psychology Keywords: disability, ageing, health, disablement, wellbeing, functioning, participation, inclusion, oldest olds, genetics, environmental variables, lifestyles, World Health Organization

Online: 13 August 2018 (09:47:22 CEST)

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Preprint REVIEW | doi:10.20944/preprints201808.0089.v1

Molecular and Genetic Bases of Fruit Firmness Variation in Blueberry—A Review

Francesco Cappai, Juliana Benevenuto, Luis Felipe V. Ferrao, Patricio Munoz

Subject: Biology And Life Sciences, Agricultural Science And Agronomy Keywords: firmness; Vaccinium; ripening; cell wall; crispy; quantitative genetics; breeding; molecular markers; genome editing

Online: 5 August 2018 (10:11:33 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201806.0330.v1

Identification of Marbling Gene Loci in Commercial Pigs in Canadian Herds

William Jon Meadus, Pascale Duff, Jordan Roberts, Jennifer Zantinge, Ivy Larsen, Jennifer Aalhus, Manuel Juarez

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: pigs; genetics; marbling; IMF %, GWAS

Online: 21 June 2018 (04:47:15 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201801.0266.v2

Can Genetics Predict Sports Injury? The Association of the Genes GDF5, AMPD1, COL5A1 and IGF2 on Soccer Player Injury Occurrence

Kiah McCabe, Christopher Collins

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: genetics; injury; sport; soccer; DNA; inflammation; football

Online: 9 February 2018 (02:24:40 CET)

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Preprint ARTICLE | doi:10.20944/preprints201707.0061.v1

Science's Big Problem, Reincarnation's Big Potential, and Buddhists' Profound Embarrassment

Ted Christopher

Subject: Arts And Humanities, Religious Studies Keywords: scientific materialism; genetics; reincarnation; soul; religions; science; Buddhism

Online: 21 July 2017 (05:18:59 CEST)

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Preprint ARTICLE | doi:10.20944/preprints201706.0034.v1

The Role of SNCA Rep1 Microsatellite in Parkinson’s Disease Progression

Lucia Corrado, Fabiola De Marchi, Sara Tunesi, Gaia Oggioni, Miryam Carecchio, Luca Magistrelli, Silvana Tesei, Giulio Riboldazzi, Alessio Di Fonzo, Clarissa Locci, Ilaria Trezzi, Roberta Zangaglia, Cristina Cereda, Sandra D'Alfonso, Corrado Magnani, Comi Giacomo Pietro, Giorgio Bono, Claudio Pacchetti, Roberto Cantello, Stefano Goldwurm, Cristoforo Comi

Subject: Medicine And Pharmacology, Neuroscience And Neurology Keywords: dementia; hallucinations; genetics

Online: 6 June 2017 (08:39:30 CEST)

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Preprint REVIEW | doi:10.20944/preprints201608.0115.v2

Targeted Cancer Therapy: Vital Oncogenes and a New Molecular Genetic Paradigm for Cancer Initiation Progression and Treatment

Rudolph E. Willis

Subject: Medicine And Pharmacology, Oncology And Oncogenics Keywords: oncogenes; oncogene addiction; carcinogenesis; transcription factor; cancer genome; gene fusion; cancer genetics; cancer stem cell; targeted cancer therapy; personalized medicine

Online: 14 September 2016 (08:30:41 CEST)

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