Genetic Processes Commons^™

Terahertz Electromagnetic Effects And Chirality-Induced Spin Selectivity In Dna, F. Matthew Mihelic Md

Faculty Publications

The effects of terahertz electromagnetic stimulation of the DNA molecule can be understood through modeling of the quantum logical mechanics of the DNA molecule.  Coherent conduction of electron spin states along the aromatic nucleotide base pairs and chirality-induced spin selectivity are two characteristics of the DNA molecule that are involved in the precise separation of the double-stranded DNA molecule at a specific location.  Such modeling can inform predictions of DNA strand separation and has significant implications for understanding DNA transcription bubble formation.

Evaluating The Accuracy Of Face2gene Phenotyping Tools In South African Children With Neurodevelopmental Disorders, Hendrike Mcdonald, Zandrè Bruwer, Michal Zieff, Emma Eastman, Brigitte Melly, Rizqa Sulaiman-Bardien, Karen Fieggen, Shahida Moosa, Charles Newton, Amina Abubakar

Institute for Human Development, East Africa

Objectives Computational phenotyping tools, like Face2Gene, are increasingly used to support genetic diagnosis by analysing facial features. These tools perform well in Global North populations but are less accurate in other groups. This study aimed to assess the performance of Face2Gene’s DeepGestalt, FeatureMatcher, and D-Score in South African children with neurodevelopmental disorders (NDDs) and unaffected controls.

Methods Facial photographs of 301 children from the NeuroDev South Africa study were analysed including 36 children with NDDs with a confirmed molecular diagnosis, 176 with NDDs without a confirmed molecular diagnosis, and 89 controls. Diagnostic accuracy of DeepGestalt and FeatureMatcher was assessed by …

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni Boltz, Benjamin Chu, Matthew Defelice, Calwing Liao, Julia Sealock, Robert Ye, Jacqueline Goldstein, Lerato Majara, Jack Fu, Lukoye Atwoli

Internal Medicine, East Africa

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …

Missense Mutations In The Snca Gene: Molecular Mechanisms And Clinical Implications, Pranaya Gade, Nishant Patel, Jamir Pitton Rissardo, Jorge Patino, Ana Fornari-Caprara, Ian Walker

Rowan-Virtua Research Day

The SNCA gene on chromosome 4 encodes the alpha-synuclein (αSyn) protein, which plays a central role in the pathogenesis of synucleinopathies, including Parkinson’s disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). While αSyn has established roles in synaptic vesicle dynamics and neuronal signaling, alterations in SNCA regulation and sequence contribute to protein misfolding, aggregation, and loss of function. Alterations in secondary and tertiary structure, as well as protein aggregation, affect biochemical interactions, ultimately leading to pathogenesis. This review outlines the molecular architecture of the SNCA gene, including regulatory regions, alternative splicing, and untranslated regions that influence …

Human Biology Group Project, Wroud Saleh

Open Educational Resources

No abstract provided.

Using Genetically Diverse Mice To Examine The Effects Of Environmental Enrichment Of The Transcriptome, Michael Richard Leonardo

Theses, Dissertations and Capstones

Environmental impoverishment is a model of early life stress with direct consequences across a wide range of neurological and physiological conditions. Neuron morphology and density as well as anxiety disorders and addiction have shown to have significant relationships with environmental impoverishment models. Conversely, environmental enrichment confers therapeutic benefits that are protective across these conditions. There is an observed spectrum of resistance or vulnerability to the effects of housing conditions across populations, indicating genetics as an influential factor. Understanding this interaction is critical for deepening our knowledge of how genes and environment interact in ways that confer resistance or vulnerability, and …

Wnt4 Deficiency Impacts Heart, Diaphragm, And Palate Development: Insights From Human Genetics, Machine Learning, And Mouse Models, Andrés Hernández-García, Bum Jun Kim, David Chitayat, Patrick Shannon, Stephanie Hedges, Maria Al Bandari, Maria J Guillen Sacoto, Emily Anne Bates, Yunus H Ozekin, Victor Faundes, Pamela N Luna, Chad A Shaw, Tara L Rasmussen, Chih-Wei Hsu, Daryl A Scott

Faculty, Staff and Students Publications

WNT4 is a secreted protein that plays a critical role in the regulation of cell fate and embryogenesis. Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome has only been described in a single consanguineous kindred with four affected fetuses. Additional features seen in a subset of affected fetuses included ventricular septal defect (VSD), congenital diaphragmatic hernia (CDH), and orofacial clefting (OFC). To determine if these additional features were likely to be caused by WNT4 deficiency, we used machine learning …