Molecular Genetics Commons^™

Neurological Gene Jus Is Associated With Aging-Related Muscle Loss In The Fly Model Of Sarcopenia., Soobin An

Symposium of Student Scholars

Sarcopenia is a health condition in the elderly that is associated with degradation of muscle size, mass, and function. It can cause physical disability and, in extreme cases, death. The genetic aspect of sarcopenia is still not well understood. To shed light on sarcopenia mechanisms, we investigated muscle loss in aging fruit flies, Drosophila melanogaster. Our hypothesis was that aging-dependent muscle degradation can be affected by suboptimal functioning of the central nervous system (CNS). We used RNA interference and tissue-specific genetic drivers to induce a selective knockdown (KD) of the julius seizure gene (jus), which is associated …

Fine-Scale Morphological Divergence Of Wing Trait Variables In Highly Fragmented Populations Of The Bog Copper Butterfly (Lycaena Epixanthe), Jessica L. T. Jeong

Undergraduate Student Research Internships Conference

Habitat fragmentation can adversely affect animal and plant species through subdividing their natural habitats into smaller, more isolated patches. Oftentimes, these isolated groups are subject to reduced dispersal and gene flow, leading to genetic divergence and, consequently, morphological divergence among populations. This study aims to quantify the morphological divergence of the bog copper butterfly, Lycaena epixanthe, between nine isolated bog sites in Algonquin Provincial Park, Ontario, via seven quantitative morphological traits in their wing pattern. Statistical analyses demonstrate significant differences in wing trait measurements between populations. As bog coppers are small, weak fliers with a strict host-plant dependency, it …

Creating A Protein Chimera To Study Regulation Of Muscle Diversity, Shannon Scarboro

Symposium of Student Scholars

Creating a protein chimera to study regulation of muscle diversity.

Body muscles are made of many individual super-cells, called muscle fibers, that have distinct properties and determine every individual’s strength and endurance. Initially all muscle fibers have identical characteristics, but become differentiated into specific types in adults. The mechanism of such transition is not well understood, despite its obvious importance for shaping human physicality.

Remarkable conservation of the muscle tissue enables us to use fruit flies to study the mechanisms of muscle fiber diversity. We hypothesized that the transcription factor Mef2 acts as a molecular switch that activates structural genes …

Germline Variants Associated With Cancer Predisposition And Bone Marrow Failure Are Common In Kmt2a-R Infant Acute Lymphoblastic Leukemia Patients, Sarah E. Mc Dermott

Research Days

Background: Infant acute lymphoblastic leukemia (ALL), is a particularly aggressive subtype of leukemia with an early onset and unfavorable clinical outcome. Most (~70%) cases of infant ALL involve chromosomal rearrangement of KMT2A (KMT2A- r) on chromosome 11q23, the strongest independent predictor of a poor prognosis. To date, genomics studies have consistently demonstrated KMT2A-r infant ALL to have a strikingly silent landscape of DNA mutations. Germline mutations in cancer predisposition genes are found in 8.6% of pediatric malignancies and 4.4% of pediatric leukemias, compared to 1.1% in persons in the 1000 Genomes Project.

Objectives/Goal: We hypothesized that germline variants may contribute …

Many Clinical Laboratories Performing Next-Generation Sequencing Have No Future Plans To Migrate To The Most Recent Human Reference Genome Build (Grch38), Lisa A. Lansdon

Research Days

Background: Analysis of clinical next-generation sequencing (NGS) data requires the Human Reference Genome (HRG) for alignment. Build GRCh38 was released in December 2013 and resolved ~1,000 issues from GRCh37, including erroneous calls within clinically-relevant genes.

Objectives/Goal: Despite this new release becoming available over seven years ago, most clinical laboratories continue to use build GRCh37. We were interested to learn other clinical laboratory’s plans for migration to GRCh38, including their proposed timelines and related concerns; therefore, we conducted a survey to define the current landscape of genome alignment in clinical NGS.

Methods/Design: Seventy-one clinical laboratories performing constitutional NGS testing were invited …

Evolutionary Conservation Of The Heterochronic Pathway In C. Elegans And C. Briggsae, Maria Ivanova, Eric G. Moss

Rowan-Virtua Research Day

Heterochronic genes control the sequence and timing of developmental events during four larval stages of Caenorhabitis nematodes. Mutations in these genes may cause skipping or reiteration of developmental events.

C. briggsae is a close relative of C. elegans. These species have similar morphology and share the same ecological niche. C. briggsae undergoes the same developmental pathway consisting of four larval stages before reaching adulthood. It also has the same set of heterochronic genes.

Lin-28 is one of the heterochronic genes that also exists in other animals from flies to humans. It conservatively blocks the maturation of let-7 miRNA, the process …

Understanding The Genetics Of Schizophrenia, Matthew Toohey

Thinking Matters Symposium

Schizophrenia has been considered heritable for a long time, but only with the advent of new technologies such as whole-genome sequencing and genome-wide association studies can we begin to identify specific molecular causes of schizophrenia. This poster will review some of the genetic variants that research groups have associated with schizophrenia. Current research has indicated that schizophrenia is a polygenic disease and has been linked to many genes. Some of these common risk variants are in protein coding sections of the DNA. These proteins are often linked to neurological development or immune system function. Other variants that have been associated …

The Genes Of Pain, Alina Semenova

Thinking Matters Symposium

Pain is an important defense mechanism that protects us from environmental factors that might harm us. Our body's response to pain helps us to avoid injury. However, constant pain is a problem. Management of constant pain is an important area of research. Studies have shown that genetic variation contributes to pain sensitivity.

Numerous pain-related genes and their functional polymorphisms (CYP450, MOR-1, COMT, GCH1, etc.) have been identified in the past ten years. In particular, three opioid receptors (OPRM, OPRD and OPRK) are associated with pain sensitivity. One of the most studied human functional polymorphisms is the debrisoquine/sparteine polymorphism of CYP2D6 …