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Whole Exome Sequencing Identifies A Novel Mutation In Aspm And Ultra-Rare Mutation In Cdk5rap2 Causing Primary Microcephaly In Consanguineous Pakistani Families, Ehtisham Ul Haq Makhdoom, Haseeb Anwar, Shahid Mahmood Baig, Ghulam Hussain 2022 Government College University, 38000, Faisalabad, Pakistan

Whole Exome Sequencing Identifies A Novel Mutation In Aspm And Ultra-Rare Mutation In Cdk5rap2 Causing Primary Microcephaly In Consanguineous Pakistani Families, Ehtisham Ul Haq Makhdoom, Haseeb Anwar, Shahid Mahmood Baig, Ghulam Hussain

Department of Biological & Biomedical Sciences

Background & objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed for molecular genetic characterization of Pakistani families segregating MCPH.
Methods: We studied two unrelated consanguineous families (family A and B) presenting >2 patients with diagnostic symptoms of MCPH, born to asymptomatic parents. We employed whole-exome sequencing (WES) of probands to find putative causal mutations. The candidate variants were further confirmed and analyzed for co-segregation by Sanger sequencing of all available members of each family. This study was conducted at Government College University, Faisalabad, Pakistan, and Cologne Center for Genomics (CCG), University of Cologne, Germany; during 2017-2020.
Results: We identified a novel homozygous variant c.10097_10098delGA, p.(Gly3366Glufs*19) in exon 26 of ASPM gene in family A which presents with moderate intellectual disability, speech impairment, visual abnormalities, seizures, and ptyalism. Family B was found to segregate nonsense, homozygous variant c.448C>T p.(Arg150*) in CDK5RAP2. The patients also exhibited mild to severe seizures without ptyalism that has not been previously reported in patients with mutations in the CDK5RAP2 gene.
Conclusion: We report a novel mutation in ASPM and ultra-rare mutation in the CDK5RAP2 gene, both causing primary microcephaly. The study expands the ...


The Application Of The Skin Virome For Human Identification, Ema H. Graham, Jennifer Clarke, Samodha Fernando, Joshua Herr, Michael Adamowicz 2022 University of Nebraska-Lincoln

The Application Of The Skin Virome For Human Identification, Ema H. Graham, Jennifer Clarke, Samodha Fernando, Joshua Herr, Michael Adamowicz

Virology Papers

The use of skin virome offers a unique approach for human identification purposes in instances where a viable and statistically relevant human DNA profile is unavailable. The skin virome may act as an alternative DNA profile and/or an additional form of probative genetic material. To date, no study has attempted to investigate the human virome over a time series across various physical locations of the body to identify its diagnostic potential as a tool for human identification. For this study, we set out to evaluate the stability, diversity, and individualization of the human skin virome. An additional goal was ...


Immunoregulatory Receptor Genetics, Expression, And Splicing Studies In Alzheimer’S Disease, Benjamin C. Shaw 2022 University of Kentucky

Immunoregulatory Receptor Genetics, Expression, And Splicing Studies In Alzheimer’S Disease, Benjamin C. Shaw

Theses and Dissertations--Physiology

Microglia are the resident immune cells of the brain, undertaking many critical tissue maintenance functions such as immune surveillance and phagocytosis. Microglial dysfunction has recently been identified as a multi-stage signature of many neurodegenerative diseases, including late-onset Alzheimer’s Disease (LOAD). Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) in over thirty genes that modulate risk of developing LOAD. In the central nervous system, roughly half of these LOAD-associated genes are primarily expressed in microglia. The proteins encoded by these genes include cell surface receptors that contain either immunomodulatory tyrosine-phosphorylated activating motifs (ITAMs) or inhibitory motifs (ITIMs), including ...


Role Of Micrornas In Non-Functioning Pituitary Adenoma, Mehak Ismail Rajani, Yumna Mirza, Rohan Advani, Syed Muhammad Adnan Ali, Ather Enam 2022 Aga Khan University

Role Of Micrornas In Non-Functioning Pituitary Adenoma, Mehak Ismail Rajani, Yumna Mirza, Rohan Advani, Syed Muhammad Adnan Ali, Ather Enam

Centre for Innovation in Medical Education

Non-functioning pituitary adenomas account for 30% of anterior pituitary tumours. Based on their inability to secrete hormones, these are often diagnosed incidentally or due to pressure symptoms. Understanding the pathogenesis of these adenomas can provide insight into factors leading to its progression and serving as biomarkers for early recognition. A literature search was performed in the current narrative review for articles published in PubMed for the last 10 years till January 2020 on micro-ribonucleic acid involved in the pathogenesis of non-functioning pituitary adenomas. Of the 478 articles found, 21(4.4%) were filtered. In total, 106 micro-ribonucleic acids were identified ...


Modeling The Evolution Of Herbicide Resistance In Weed Species With A Complex Life Cycle, K. Harrison Holmes, John L. Lindquist, Richard Rebarber, Rodrigo Werle, Melinda K. Yerka, Brigitte Tenhumberg 2022 University of Nebraska-Lincoln

Modeling The Evolution Of Herbicide Resistance In Weed Species With A Complex Life Cycle, K. Harrison Holmes, John L. Lindquist, Richard Rebarber, Rodrigo Werle, Melinda K. Yerka, Brigitte Tenhumberg

Brigitte Tenhumberg Papers

A growing number of weed species have evolved resistance to herbicides in recent years, which causes an immense financial burden to farmers. An increasingly popular method of weed control is the adoption of crops that are resistant to specific herbicides, which allows farmers to apply the herbicide during the growing season without harming the crop. If such crops are planted in the presence of closely related weed species, it is possible that resistance genes could transfer from the crop species to feral populations of the wild species via gene flow and become stably introgressed under ongoing selective pressure by the ...


Design Of A Synthetic Temperature-Activated Epigenetic Biocontainment System, Owen Rivers Page 2022 Saint John's University, Jamaica New York

Design Of A Synthetic Temperature-Activated Epigenetic Biocontainment System, Owen Rivers Page

Theses and Dissertations

The need for an internal control to govern engineered strain survival is becoming apparent when considering the biosafety and ethics within biotechnological research. Using understudied regulatory elements known as RNA thermometers (RNATs) that can modulate protein translation based on temperature changes and a Type II restriction modification system, we posit the creation of a synthetic temperature-activated epigenetic biocontainment system, termed the ‘sentinel switch’. We have mined a wide variety of bacteria from Yersinia pestis to Synechocystis sp. looking for novel RNATs. A complementary synthetic biology approach based on library generation and screening of chimeric RNATs (ChRNATs) was also conducted. RNATs ...


Molecular Genetic Investigation Of Twins, Families, And Populations, Jeffrey John Beck 2022 University of South Dakota

Molecular Genetic Investigation Of Twins, Families, And Populations, Jeffrey John Beck

Dissertations and Theses

Twins have long been of interest for illuminating genetic and environmental influences on human traits and diseases. These explorations have been accelerated by the substantial amount of information collected from twins and their families participating in twin registers around the world. In this dissertation, I review what is known and what remains unknown about the biology and genetics of twins and the underlying twinning process. To elucidate additional genetic factors of the twinning process, I employed pedigree-based analysis to identify genetic regions shared among distantly related mothers of dizygotic twins. The shared regions may potentially contain rare genetic variants with ...


Exploring The Functionality Of Putative Bop3 Post-Translational Modifications, Liliya Tkachuk, Rebecca Adams PhD 2022 Belmont University

Exploring The Functionality Of Putative Bop3 Post-Translational Modifications, Liliya Tkachuk, Rebecca Adams Phd

Belmont University Research Symposium (BURS)

All eukaryotic cells require that transcribed mRNAs undergo export form the nucleus to the cytoplasm where they can be translated into proteins. This process requires a host of proteins which are conserved between the unicellular budding yeast, S. cerevisiae, and humans. During this process, Mex67 and other associated proteins facilitate the mRNA to travel across the nuclear pore complex (NPC), doorways embedded in the nuclear envelope. Upon the exit of mRNA, Mex67 is released and recycled back into the nucleus to provide the export of more mRNA. This release occurs through the action of Dbp5, whose activity is regulated through ...


Robust Meta-Analysis For Large-Scale Genomic Experiments Based On An Empirical Approach, Sinjini Sikdar 2022 Old Dominion University

Robust Meta-Analysis For Large-Scale Genomic Experiments Based On An Empirical Approach, Sinjini Sikdar

Mathematics & Statistics Faculty Publications

BACKGROUND: Recent high-throughput technologies have opened avenues for simultaneous analyses of thousands of genes. With the availability of a multitude of public databases, one can easily access multiple genomic study results where each study comprises of significance testing results of thousands of genes. Researchers currently tend to combine this genomic information from these multiple studies in the form of a meta-analysis. As the number of genes involved is very large, the classical meta-analysis approaches need to be updated to acknowledge this large-scale aspect of the data.

METHODS: In this article, we discuss how application of standard theoretical null distributional assumptions ...


Genomic Analysis Of Acetoanaerobium Sp. Vlb-1, An Anaerobic Bacterium Isolated From Nebraska's Eastern Saline Wetlands, Claire Martin 2022 University of Nebraska - Lincoln

Genomic Analysis Of Acetoanaerobium Sp. Vlb-1, An Anaerobic Bacterium Isolated From Nebraska's Eastern Saline Wetlands, Claire Martin

Honors Theses, University of Nebraska-Lincoln

Through the analysis of genetic code, the genomic and physiological characteristics of an environmental anaerobic bacterial isolate, Acetoanaerobium sp. strain VLB-1, can be determined and significant pathways can be identified in its significance to the environment. This particular organism was isolated from the Eastern Saline Wetlands in Lincoln, NE. With this isolate, an investigation into elemental and amino acid cycling via the Stickland reaction and the Wood-Ljungdahl pathway was conducted to determine possible metabolic products. The Stickland reaction is a relatively newly discovered pathway, observed in the genus Clostridium. A. sticklandii is the main model for this method of anaerobic ...


Florida Sand Skink And Blue-Tailed Mole Skink: Expanding Geographic Coverage Of Genetic Analysis For Conservation, Emma Simpson 2022 Georgia Southern University

Florida Sand Skink And Blue-Tailed Mole Skink: Expanding Geographic Coverage Of Genetic Analysis For Conservation, Emma Simpson

Electronic Theses and Dissertations

The Lake Wales Ridge is important scrub habitat that has been increasingly altered since the post-Columbian settlement in Florida. This loss of habitat has caused extreme anthropogenic fragmentation within the Lake Wales Ridge resulting in isolation among extant scrub patches. To expand the geographic scope of previous studies and answer questions concerning population connectivity, we characterized genetic diversity and differentiation using cytochrome-b and microsatellite genetic markers for two endemic skink species: the Florida Sand Skink (Plestiodon reynoldsi) and Blue-tailed Mole Skink (Plestiodon egregius lividus). Both species display historical isolation between central and southern Lake Wales Ridge regions with recent indication ...


Reduction Of Plasmid Vector Backbone Length Enhances Reporter Gene Expression, Carly Boye, Sezgi Arpag, Michael Francis, Scott DeClemente, Aislin West, Richard Heller, Anna Bulysheva 2022 Old Dominion University

Reduction Of Plasmid Vector Backbone Length Enhances Reporter Gene Expression, Carly Boye, Sezgi Arpag, Michael Francis, Scott Declemente, Aislin West, Richard Heller, Anna Bulysheva

Electrical & Computer Engineering Faculty Publications

Gene therapy has a wide range of applications for various types of pathologies. Viral methods of gene delivery provide high levels of gene expression but have various safety concerns. Non-viral methods are largely known to provide lower levels of expression. We aim to address this issue by using plasmid DNA with smaller backbones to increase gene expression levels when delivered using non-viral methods. In this study we compare gene expression levels between two vectors with firefly luciferase encoding gene insert using liposome complexes and gene electrotransfer as delivery methods. A 2-fold reduction in plasmid vector backbone size, disproportionately enhanced gene ...


Dying To Be Masculine: The Barriers Men Face To Accessing Genetic Counseling, Malia Olson 2022 Regis University

Dying To Be Masculine: The Barriers Men Face To Accessing Genetic Counseling, Malia Olson

Regis University Student Publications

There is a crisis in healthcare that is often not discussed: men’s health. Men die younger, are more burdened by illness during life, fall ill at a younger age, and have more chronic illnesses than women. Contradictory concepts of health, struggles with help-seeking, and worse healthcare outcomes and life expectancies for men can be traced back to attempts to conform to hegemonic masculine ideals or social norms. Although researchers have studied the stigma of help-seeking in men, these ideas have yet to be extended to the field of genetic counseling. This review outlines the barriers that men face when ...


Cross Species Use Of Human Microarray Genotyping Technology For Bornean Orangutan (Pongo Pygmaeus) Snp Discovery, Ruth Ella Linsky, R. Steven Wagner, Reniastoetie Djojoasmoro, Joseph G. Lorenz, Biruté M. F. Galdikas 2022 Central Washington University

Cross Species Use Of Human Microarray Genotyping Technology For Bornean Orangutan (Pongo Pygmaeus) Snp Discovery, Ruth Ella Linsky, R. Steven Wagner, Reniastoetie Djojoasmoro, Joseph G. Lorenz, Biruté M. F. Galdikas

Student Published Works

Previous genetic studies of orangutans (Pongo spp.) have relied mainly upon mitochondrial DNA or microsatellite short tandem repeats (STR) for genomic genotyping analysis. Scientists have yet to take advantage of the genetic closeness of the great apes to humans for genomic analysis by using advanced techniques available for human genotyping. To genotype orangutans at Tanjung Puting National Park, we developed a novel combination of a methyl-based magnetic enrichment capture of genomic fecal DNA with genotyping on a human targeted single nucleotide polymorphism (SNP) microarray, and compared this to additional microsatellite (STR) micro-capillary genotyping. We successfully isolated 125 known human genomic ...


Sex And Starvation Influences Latrotoxin Expression In The Brown Widow Spider, Mattie Harris 2022 Georgia Southern University

Sex And Starvation Influences Latrotoxin Expression In The Brown Widow Spider, Mattie Harris

Honors College Theses

Widow spiders (genus Latrodectus) are well-known for their potent venom. Seven latrotoxin proteins constitute the main components of widow spider venom. The vertebrate specific (α-latrotoxin) and insect specific (α-latroinsectotoxin) latrotoxins have been well-characterized with respect to structure and function. Regulation of latrotoxin gene expression is not well understood but sex and feeding could be factors influencing production. In this study, I used quantitative qPCR to (1) characterize the expression patterns of both the insect and vertebrate specific latrotoxins in male and female brown widow spiders (Latrodectus geometricus) to characterize sex-biased expression and to (2) study expression patterns when female spiders ...


Comparative Transcriptomic Analysis Of Cancer Testis Genes In Ovarian Cancer, Zayne Knuth 2022 Michigan Technological University

Comparative Transcriptomic Analysis Of Cancer Testis Genes In Ovarian Cancer, Zayne Knuth

Dissertations, Master's Theses and Master's Reports

Cancer testis genes are common targets for the development of immunotherapy for cancer treatment. Ovarian cancer is one of the leading causes of death in women cancer patients. Cancer testis genes play a role in tumorigenesis, but it is not clear how these genes are activated. This study utilized differential expression analysis between The Cancer Genome Atlas (TCGA) ovarian cancer data, Genotype-Tissue Expression (GTEx) non-cancerous ovary and testis data, and cell line data to identify a list of cancer testis genes that have a novel expression profile. To identify ovarian cancer testis genes, we obtained normal ovary tissue data and ...


Characterization Of Two Krab-Containing Zinc Finger Transcription Factors In Bovine Preimplantation Embryonic Development, Mingxiang Zhang 2022 West Virginia University

Characterization Of Two Krab-Containing Zinc Finger Transcription Factors In Bovine Preimplantation Embryonic Development, Mingxiang Zhang

Graduate Theses, Dissertations, and Problem Reports

Oocyte developmental competence or oocyte intrinsic quality describes the capability of oocytes to resume meiosis, cleave and develop to blastocyst stage after fertilization, implant and develop to term in a good health. A growing number of evidences indicate that the majority of embryonic mortality occurs during early embryonic development in different species, including human, horse and cattle primarily due to poor oocyte quality. Maternal effect genes are key aspects of oocyte quality, which are transcribed during the process of oogenesis and folliculogenesis. The maternal factors are accumulated in oocytes, orchestrating various early developmental events including fertilization, epigenetic reprogramming and zygotic ...


Genetic Underpinnings Of Novel Trait Development In A Euwallacea-Fusarium Mutualism, Elaina J. Spahr 2022 West Virginia University

Genetic Underpinnings Of Novel Trait Development In A Euwallacea-Fusarium Mutualism, Elaina J. Spahr

Graduate Theses, Dissertations, and Problem Reports

Evolutionary Developmental Biology seeks to answer fundamental questions about the mechanisms underlying the evolution and innovation towards increasing structural complexity within the body plan. The ambrosia symbiosis, a polyphyletic group of xylem-feeding beetles, provides a wealth of diversity in novel pouch-like structures called mycangia. This diversity could serve as a rich model for understanding how mutualisms may prompt structural innovation and diversification in a host organism. The ambrosia symbiosis has become a fast-growing research subject in entomology and forest pathology but has yet to experience the same attention under the lens of evolutionary developmental genetics.

Development of mycangia was examined ...


Effects Of Buried Wood On The Development Of Populus Tremuloides On Various Oil Sands Reclamation Soils, Kaitlyn E. Trepanier, Laura Manchola-Rojas, Bradley D. Pinno 2022 University of Alberta

Effects Of Buried Wood On The Development Of Populus Tremuloides On Various Oil Sands Reclamation Soils, Kaitlyn E. Trepanier, Laura Manchola-Rojas, Bradley D. Pinno

Aspen Bibliography

Buried wood is an important but understudied component of reclamation soils. We examined the impacts of buried wood amounts and species on the growth of the common reclamation tree species trembling aspen (Populus tremuloides). In a greenhouse study, aspen seedlings were planted into four soil types, upland derived fine forest floor-mineral mix (fFFMM), coarse forest floor-mineral mix (cFFMM), and lowland derived peat and peat-mineral mix (PMM), that were mixed with either aspen or pine wood shavings at four concentrations (0%, 10%, 20% and 50% of total volume). Height and diameter growth, chlorophyll concentration, and leaf and stem biomass were measured ...


Amelioration Of Mitochondrial Bioenergetic Dysfunction In Diabetes Mellitus: Delving Into Specialized And Non-Specific Therapeutics For The Ailing Heart, Andrya Jean Durr 2022 West Virginia University

Amelioration Of Mitochondrial Bioenergetic Dysfunction In Diabetes Mellitus: Delving Into Specialized And Non-Specific Therapeutics For The Ailing Heart, Andrya Jean Durr

Graduate Theses, Dissertations, and Problem Reports

Morbidity and mortality of the diabetic population is influenced by many confounding factors, but cardiovascular disease (CVD), remains the leading cause of death. Mitochondrial dysfunction is central in the development of cardiac contractile dysfunction, with decreased mitochondrial bioenergetic function, increased dependence on free fatty acid utilization, and a decrease in glucose utilization having been shown to contribute to contractile dysfunction. Strategies targeting the amelioration of mitochondrial bioenergetic function are attractive for limiting diabetes-induced heart failure, and preserving health-span. The goals of this dissertation were to assess two mitochondrial-centric approaches for the amelioration of mitochondrial and cardiac contractile dysfunction in diabetes ...


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