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Full-Text Articles in Life Sciences

Evaluation Of The Bax-Vdac Interaction And Their Influence On Apoptosis In Drosophila Melanogaster, Frances Marie Gatlin May 2020

Evaluation Of The Bax-Vdac Interaction And Their Influence On Apoptosis In Drosophila Melanogaster, Frances Marie Gatlin

Honors Theses

Apoptosis, also known as programmed cell death, is a cellular process used for development or for when cells undergo injury or stress. The Bcl2 family of proteins includes both pro-apoptotic and anti-apoptotic proteins that control the intrinsic pathway of apoptosis. Understanding the mechanisms and influence these proteins have on apoptosis is an important area of research focused on in Dr. Jones’s lab. Evidence shows a homology amongst the Bcl2 family of proteins at the BH3 domain. Dr. Jekabsons' lab has found a potential homology amongst VDAC 1-3 and the Bcl2 family at the BH3 domain.

Specifically, our lab is ...


Population Genetics Of A Recent Range Expansion By The Southern Pine Beetle, Dendroctonus Frontalis, Into The Northeastern United States, Megan Stubbs May 2020

Population Genetics Of A Recent Range Expansion By The Southern Pine Beetle, Dendroctonus Frontalis, Into The Northeastern United States, Megan Stubbs

Honors Theses

Population genetics as a field of study aims to determine the genetic variation among individuals in a population, and differences among populations. Certain population genetic analyses can provide such information and be used to better understand the biological aspects to a species’ expansion beyond its native range. The southern pine beetle (SPB), Dendroctonus frontalis, has become an invasive pest to pine forests in northeastern United States with its recent range expansion. Nine microsatellite loci were first developed and then used in analyses. To determine what the genetic variation is among individuals in SPB populations across its entire range, including ones ...


The Embark® Protocol: Dog Genomics In Genetics Laboratories, Alexandra Lyn Kissel May 2020

The Embark® Protocol: Dog Genomics In Genetics Laboratories, Alexandra Lyn Kissel

Honors Theses

In a world of ever-advancing technology, it is imperative that young pre-health professionals are educated according to the most relevant research. One of the most fundamental, foundational concepts of health is genetics. This field is rapidly expanding, and quickly engraining itself into the realm of healthcare. Genetic testing and gene therapies, once subjects of science fiction, have become commonplace. It is more important than ever that health professionals have a concrete knowledge of genetics, and this begins with the proper education of pre-health students.

With this idea in mind, a laboratory protocol was designed for students of the Bisc 336 ...


The Embark Protocol: Dog Genomics In Genetics Laboratories 5/5/2020, Alexandra Kissel May 2020

The Embark Protocol: Dog Genomics In Genetics Laboratories 5/5/2020, Alexandra Kissel

Honors Theses

In a world of ever-advancing technology, it is imperative that young pre-health professionals are educated according to the most relevant research. One of the most fundamental, foundational concepts of health is genetics. This field is rapidly expanding, and quickly engraining itself into the realm of healthcare. Genetic testing and gene therapies, once subjects of science fiction, have become commonplace. It is more important than ever that health professionals have a concrete knowledge of genetics, and this begins with the proper education of pre-health students.

With this idea in mind, a laboratory protocol was designed for students of the Bisc 336 ...


Active Learning Pedagogies To Design A New Advanced Genetics Course: Using Students' Feedback To Create A Tailored Stem Class For Ssu, Marina Tarantino, Jason Brown, Laura Laranjo May 2020

Active Learning Pedagogies To Design A New Advanced Genetics Course: Using Students' Feedback To Create A Tailored Stem Class For Ssu, Marina Tarantino, Jason Brown, Laura Laranjo

Research Day

The STEM field is constantly evolving where graduate schools, medical schools, and the science job market are becoming more competitive. It is important for the students of Salem State University (SSU) that their curriculum is consistently being adapted to fit these new needs. A large percentage of the SSU biology community aims to enter the medical field, biotechnology field, or go on to pursue post graduate education. These are paths that require students to have an advanced level of knowledge pertaining to genetics and this is an area Salem State is starting to fall behind in compared to options offered ...


Genetic Intelligence: Myth Busted, Carissa Brand Apr 2020

Genetic Intelligence: Myth Busted, Carissa Brand

Academic Symposium of Undergraduate Scholarship

No abstract provided.


Evolutionary And Ecological Determinism Of Host Specificity In Arthropod Parasites, Joseph Levey Apr 2020

Evolutionary And Ecological Determinism Of Host Specificity In Arthropod Parasites, Joseph Levey

UCARE Research Products

Understanding why some diseases infect more species than others is crucial for predicting where and when disease will spread, which can inform the management of wildlife, agriculture, and human health. Currently, large scale patterns of host-parasite dynamics are being studied to understand where to look for and how to manage emerging human diseases (Leroy 2005; Benelli 2018). Previous research has used the Global Mammal Parasite Database (GMPD) to look at host breadth—the number and diversity of species a pathogen can infect—for various groups of parasites, e.g. helminths, arthropods, fungi, etc., from a host-centric perspective (Stephens et al ...


The Covid-19 Pandemic: A Comprehensive Review Of Taxonomy, Genetics, Epidemiology, Diagnosis, Treatment, And Control, Yosra A. Helmy, Mohamed Fawzy, Ahmed Elaswad, Ahmed Sobieh, Scott P. Kenney, Awad A. Shehata Apr 2020

The Covid-19 Pandemic: A Comprehensive Review Of Taxonomy, Genetics, Epidemiology, Diagnosis, Treatment, And Control, Yosra A. Helmy, Mohamed Fawzy, Ahmed Elaswad, Ahmed Sobieh, Scott P. Kenney, Awad A. Shehata

Coronavirus COVID-19 Publications by UMMS Authors

A pneumonia outbreak with unknown etiology was reported in Wuhan, Hubei province, China, in December 2019, associated with the Huanan Seafood Wholesale Market. The causative agent of the outbreak was identified by the WHO as the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), producing the disease named coronavirus disease-2019 (COVID-19). The virus is closely related (96.3%) to bat coronavirus RaTG13, based on phylogenetic analysis. Human-to-human transmission has been confirmed even from asymptomatic carriers. The virus has spread to at least 200 countries, and more than 1,700,000 confirmed cases and 111,600 deaths have been recorded, with massive global ...


Genetic Studies Of Wildlife, Brittaney L. Buchanan Apr 2020

Genetic Studies Of Wildlife, Brittaney L. Buchanan

Dissertations & Theses in Natural Resources

Genetic techniques are being more frequently used to understand the biology and management of wildlife species. The wild turkey is one species of genetic interest because the correct identification of individuals to the subspecies level is difficult using traditional methods. Currently phenotypic differences in plumage, especially the upper tail coverts, are used to assign individuals to subspecies. To hunters wanting to complete a “grand slam,” identification of birds’ subspecies is important. This study focuses on the five extant subspecies: Eastern (M. g. silvestris), Osceola (M. g. osceola), Rio Grande (M. g. intermedia), Merriam’s (M. g. merriami), and Gould’s ...


Advanced Phenotyping Of Otosclerosis In An Ontario Population And Two Large Newfoundland Families, Matthew B. Lucas Apr 2020

Advanced Phenotyping Of Otosclerosis In An Ontario Population And Two Large Newfoundland Families, Matthew B. Lucas

Electronic Thesis and Dissertation Repository

Otosclerosis is a relatively common hearing loss disorder characterized by abnormal bone growth in the otic capsule leading to stapes fixation. In approximately half of cases, otosclerosis is inherited as an autosomal dominant trait. Typically, gene discovery efforts rely on surgical confirmation, audiometry and occasionally acoustic reflexes to identify affected cases of otosclerosis within families, requiring that the otosclerosis was at an advanced stage to be detected. This makes it difficult to identify individuals with early otosclerosis. The use of advanced phenotyping to identify cases of otosclerosis was tested in an Ontario otosclerotic population as well as in two large ...


Introduction And Evaluation Of 10 Hybrid Quinoa X Pitseed Goosefoot Lines In Central Malawi, Carter D. Allred, Mike Banda, Eric Jellen, Moses F.A. Maliro Apr 2020

Introduction And Evaluation Of 10 Hybrid Quinoa X Pitseed Goosefoot Lines In Central Malawi, Carter D. Allred, Mike Banda, Eric Jellen, Moses F.A. Maliro

Library/Life Sciences Undergraduate Poster Competition 2020

Protein deficiency is common amongst subsistence farmers in much of the developing world. It has been estimated, for example, that over one third of residents of rural Malawi are protein deficient. Adding to this problem in Malawi is the fact that there is only one brief rainy season, during which all crops are grown. Other countries with as dry a climate in the region have low population density, which allows them to reap more from their annual maize harvest. Meanwhile, countries in the region with similarly high population density as Malawi are able to grow higher value crops because of ...


Floral Traits Underlying Evolution In Gilia Yorkii, Joseph Detemple, Veronica Mosquera, Clinton Whipple Apr 2020

Floral Traits Underlying Evolution In Gilia Yorkii, Joseph Detemple, Veronica Mosquera, Clinton Whipple

Library/Life Sciences Undergraduate Poster Competition 2020

Gilia yorkii and Gilia capitata are two closely related species that have remarkably different inflorescence and floral structures. In this project we are seeking to find specific floral traits that differentiate the different species. These two species are ideal for this study because they produce a fertile hybrid in which elements of the two different phenotypes can be observed.


Comprehensive Fitness Maps Of Hsp90 Show Widespread Environmental Dependence, Julia M. Flynn, Ammeret Rossouw, Pamela A. Cote-Hammarlof, Ines Fragata, David Mavor, Carl Hollins Iii, Claudia Bank, Daniel N. Bolon Mar 2020

Comprehensive Fitness Maps Of Hsp90 Show Widespread Environmental Dependence, Julia M. Flynn, Ammeret Rossouw, Pamela A. Cote-Hammarlof, Ines Fragata, David Mavor, Carl Hollins Iii, Claudia Bank, Daniel N. Bolon

Open Access Articles

Gene-environment interactions have long been theorized to influence molecular evolution. However, the environmental dependence of most mutations remains unknown. Using deep mutational scanning, we engineered yeast with all 44,604 single codon changes encoding 14,160 amino acid variants in Hsp90 and quantified growth effects under standard conditions and under five stress conditions. To our knowledge, these are the largest determined comprehensive fitness maps of point mutants. The growth of many variants differed between conditions, indicating that environment can have a large impact on Hsp90 evolution. Multiple variants provided growth advantages under individual conditions; however, these variants tended to exhibit ...


Genetic Characterization And Genome-Wide Association Mapping For Dwarf Bunt Resistance In Bread Wheat Accessions From The Usda National Small Grains Collection, Tyler Gordon, Rui Wang, David Hole, Harold Bockelman, J. Michael Bonman, Jianli Chen Jan 2020

Genetic Characterization And Genome-Wide Association Mapping For Dwarf Bunt Resistance In Bread Wheat Accessions From The Usda National Small Grains Collection, Tyler Gordon, Rui Wang, David Hole, Harold Bockelman, J. Michael Bonman, Jianli Chen

Plants, Soils, and Climate Faculty Publications

Key message

Dwarf bunt-resistant bread wheat accessions and SNP markers associated with DB resistance identified in this study are valuable resources for characterization and deployment of DB resistance in bread wheat.

Abstract

Dwarf bunt (DB), caused by Tilletia controversa J.G. Kühn, can significantly reduce grain yield and quality on autumn-sown wheat in regions with prolonged snow cover. DB can be managed with the use of resistant cultivars. The objectives of the present study were to characterize DB resistance in a large set of bread wheat accessions from the National Small Grains Collection and use a genome-wide association study approach ...


From Mendelian Inheritance To Molecular Genomics: A Brief Appreciation Of Genetics, Tim Nguyen Jan 2020

From Mendelian Inheritance To Molecular Genomics: A Brief Appreciation Of Genetics, Tim Nguyen

Synthesis: A Digital Journal of Student Science Communication

Biology is one of many sciences advancing society and the human conquest for knowledge. Its transition from speculation to lifestyle has been a turbulent ride for centuries, but nevertheless, implications for health improvement has only allowed the field to be advocated by more and more people beyond the professions. Revolutionary findings in genetics increased rapidly for either the advancement of knowledge or its promise for medicine, and while its celebration is heard in academia and achievements like Nobel Prizes, many of the details and reasons for these celebrations are not fully understood. In this mini retrospect, I reflect on a ...


Genetic And Functional Approaches To Understanding Autoimmune And Inflammatory Pathologies, Abbas Raza Jan 2020

Genetic And Functional Approaches To Understanding Autoimmune And Inflammatory Pathologies, Abbas Raza

Graduate College Dissertations and Theses

Our understanding of genetic predisposition to inflammatory and autoimmune diseases has been enhanced by large scale quantitative trait loci (QTL) linkage mapping and genome-wide association studies (GWAS). However, the resolution and interpretation of QTL linkage mapping or GWAS findings are limited. In this work, we complement genetic predictions for several human diseases including multiple sclerosis (MS) and systemic capillary leakage syndrome (SCLS) with genetic and functional data in model organisms to associate genes with phenotypes and diseases.

Focusing on MS, an autoimmune inflammatory disease of the central nervous system (CNS), we experimentally tested the effect of three of the GWAS ...


Optimization And Validation Of The Neurolux Wireless Optoelectronics System For Optogenetics, Karis Courey, Su Hyun Lee Ph.D., Adam Smith Ph.D., Nicholas Cilz Ph.D., Sarah K. Williams Avram Ph.D., Adi Cymerblit-Sabba Ph.D., June Song, Nicholas Leipzig Ph.D., W. Scott Young M.D., Ph.D. Jan 2020

Optimization And Validation Of The Neurolux Wireless Optoelectronics System For Optogenetics, Karis Courey, Su Hyun Lee Ph.D., Adam Smith Ph.D., Nicholas Cilz Ph.D., Sarah K. Williams Avram Ph.D., Adi Cymerblit-Sabba Ph.D., June Song, Nicholas Leipzig Ph.D., W. Scott Young M.D., Ph.D.

Williams Honors College, Honors Research Projects

Utilizing light and genetic engineering, optogenetics permits the manipulation of events within cells via light using the light-sensitive properties of single-component microbial opsins. Microbial opsins are activated by a light source, such as lasers, light-emitting diodes, and incandescent sources that deliver light to the region of interest either directly or indirectly, such as through fiberoptics. In classical in vivo optogenetics, the wiring of optic fibers necessitates tethering of animals by the optic fiber to the light source. The novel NeuroLux wireless optoelectronic system for optogenetics circumvents issues pertaining to classical optogenetics by utilizing near-field power transfer via magnetic coil antennae ...


The Effects Of Internal Physiology On Polyphenic Horn Development In The Dung Beetle Onthophagus Taurus, Naomi Garrett Williamson Jan 2020

The Effects Of Internal Physiology On Polyphenic Horn Development In The Dung Beetle Onthophagus Taurus, Naomi Garrett Williamson

Graduate Theses, Dissertations, and Problem Reports

An organism’s phenotype can be affected in development by alterations to gene expression based on environmental inputs. Nutrition is one such environmental input and the central regulator of development of large horn or small horn phenotypes in the dung beetle species, Onthophagus taurus. However, little is known about the nature of chemical compounds that are critical to this plastic horn development. To better understand these compounds, we are utilizing an untargeted metabolomic approach as well as a targeted gene approach. Through the metabolomic approach, it was uncovered that environmental conditions tend to have a greater impact on metabolomic composition ...


Impact Of Sire Selection And Breed On Parasite Resistance In Sheep, Andrew Ryan Weaver Jan 2020

Impact Of Sire Selection And Breed On Parasite Resistance In Sheep, Andrew Ryan Weaver

Graduate Theses, Dissertations, and Problem Reports

Selection within and among breeds are strategies to mitigate the impact of parasitism given failing chemotherapeutics. While Texels have improved marketability compared to other parasite-resistant breeds, the mechanism by which Texels reduce fecal egg count (FEC) is unclear. The immune response to Haemonchus contortus (Hc) was compared in Texel, parasite-resistant St. Croix, and parasite-susceptible Suffolk sheep. Adult worms exposed to St. Croix- and Texel-derived peripheral blood mononuclear cells and serum in vitro had greater binding around the reproductive structures than Suffolk and worm egg release tended to be affected by breed (P = 0.09). Resistance in Texels may be caused ...


Current Dog Breeding Practices Impacts On Health And Preservation Of Purebred Dogs, Bridget E. Baker Jan 2020

Current Dog Breeding Practices Impacts On Health And Preservation Of Purebred Dogs, Bridget E. Baker

Honors Theses and Capstones

No abstract provided.


Comparing Sensitivity To Change Using The 6-Item Versus The 17-Item Hamilton Depression Rating Scale In The Guided Randomized Controlled Trial, Boadie W. Dunlop, Sagar V. Parikh, Anthony J. Rothschild, Michael E. Thase, Charles Debattista, Charles R. Conway, Brent P. Forester, Francis M. Mondimore, Richard C. Shelton, Matthew Macaluso, Jennifer Logan, Paul Traxler, James Li, Holly Johnson, John F. Greden Dec 2019

Comparing Sensitivity To Change Using The 6-Item Versus The 17-Item Hamilton Depression Rating Scale In The Guided Randomized Controlled Trial, Boadie W. Dunlop, Sagar V. Parikh, Anthony J. Rothschild, Michael E. Thase, Charles Debattista, Charles R. Conway, Brent P. Forester, Francis M. Mondimore, Richard C. Shelton, Matthew Macaluso, Jennifer Logan, Paul Traxler, James Li, Holly Johnson, John F. Greden

Open Access Articles

BACKGROUND: Previous research suggests that the 17-item Hamilton Depression Rating Scale (HAM-D17) is less sensitive in detecting differences between active treatment and placebo for major depressive disorder (MDD) than is the HAM-D6 scale, which focuses on six core depression symptoms. Whether HAM-D6 shows greater sensitivity when comparing two active MDD treatment arms is unknown.

METHODS: This post hoc analysis used data from the intent-to-treat (ITT) cohort (N = 1541) of the Genomics Used to Improve DEpression Decisions (GUIDED) trial, a rater- and patient-blinded randomized controlled trial. GUIDED compared combinatorial pharmacogenomics-guided care with treatment as usual (TAU) in patients with MDD. Percent ...


Chasing The Genetics Of Ascites In Broilers Using Whole Genome Resequencing, Alia Parveen Dec 2019

Chasing The Genetics Of Ascites In Broilers Using Whole Genome Resequencing, Alia Parveen

Theses and Dissertations

We are using whole genome resequencing to identify chromosomal regions associated with resistance or susceptibility to ascites, a form of pulmonary hypertension syndrome, meat-type chickens. Previous Genome Wide Association Studies (GWAS) based on Single Nucleotide Polymorphisms (SNPs) have identified regions on chromosomes 2, 9 and Z. Despite several GWAS and further genotyping, there are no reliable or potential markers for ascites phenotype. We have completed screening of Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms in ascites resistant and susceptible birds from the relaxed, REL, line derived from a commercial elite broiler line. DNA samples from resistant and susceptible birds ...


The Effects Of Foot And Udder Scoring On Cow And Calf Performance, Clayton Lee Mcguire Dec 2019

The Effects Of Foot And Udder Scoring On Cow And Calf Performance, Clayton Lee Mcguire

Theses and Dissertations

Foot soundness and udder conformation are essential for longevity in beef cattle. The objective of this study was to investigate the effects of foot angle (FA), claw set (CS), teat size (TS) and udder suspension (US) scores on cowherd performance. Data were analyzed for 1,685 observations on Angus-based cows over a four-year period. At weaning FA, CS, TS, and US were evaluated. Scores are based on nine-point scales. A score of one indicates straight pasterns, divergent toes, enlarged bottle shaped teats, and absence of a median suspensory ligament; nine indicates weak pasterns, curled toes, small symmetrical teats, and a ...


Investigating Growth Performance And Intestinal Barrier Integrity In Heat-Stressed Modern Broilers And Their Ancestor Jungle Fowl, Travis Tabler Dec 2019

Investigating Growth Performance And Intestinal Barrier Integrity In Heat-Stressed Modern Broilers And Their Ancestor Jungle Fowl, Travis Tabler

Theses and Dissertations

Heat stress (HS) has a negative effect on poultry production sustainability due to its adverse consequence on bird welfare, health, growth, and mortality. Although modern broilers have greater gut mass and higher energy use efficiency than unselected birds, they are more vulnerable to HS that induces “leaky gut syndrome,” or increased intestinal permeability. The aim of the current study was to determine the effect of HS on growth performance and gut barrier integrity in three modern broiler lines and their ancestor the Jungle Fowl. Four chicken populations including Giant Jungle Fowl (JF), Athens Canadian Random Bred (ACRB), 1995 Arkansas Random ...


Recent Trends In Breeding Of Tropical Grass And Forage Species, J. S. Sandhu, Dinesh Kumar, Vijay Kumar Yadav, Tejveer Singh, R. P. Sah, Auji Radhakrishna Oct 2019

Recent Trends In Breeding Of Tropical Grass And Forage Species, J. S. Sandhu, Dinesh Kumar, Vijay Kumar Yadav, Tejveer Singh, R. P. Sah, Auji Radhakrishna

International Grassland Congress Proceedings

Germplasm enrichment in major tropical grasses and their characterization for emerging environmental challenges have been major focussed area in the recent past. Breeding efforts in tropical grasses are still limited to few selected species viz. Panicum spp, Cenchrus spp, Pennisetum spp and Bracharia spp and all other grasses use of land races for varietal development through selection have been major source of improvement. The pace of breeding efforts in the tropical grasses have been slowed because of many inherent characteristics viz. apomixis, poor seed set, high photo and thermo sensitivity often creating problem in designing and implementing an effective breeding ...


Impact Of Market Forces On Product Quality And Grassland Condition, David L. Michalk, Jianping Wu, Warwick B. Badgery, David R. Kemp Oct 2019

Impact Of Market Forces On Product Quality And Grassland Condition, David L. Michalk, Jianping Wu, Warwick B. Badgery, David R. Kemp

International Grassland Congress Proceedings

Meeting demands for livestock products which are predicted to more than double during the next 20 years, is central to the challenge of feeding the world sustainably. Smallholders will play a key role in achieving global security in animal protein. However, this requires a shift from subsistence to market-oriented farming where production efficiency not the number of livestock is the key focus with the aim of producing ‘more from less’. For grassland-based ruminant production, reducing stocking rate from current unsustainable levels under subsistence management is an essential first step to producing more production and profit from fewer animals. This is ...


The Genome-Wide Multi-Layered Architecture Of Chromosome Pairing In Early Drosophila Embryos, Jelena Erceg, Jumana Alhaj Abed, Anton Goloborodko, Bryan R. Lajoie, Geoffrey Fudenberg, Nezar Abdennur, Maxim Imakaev, Ruth B. Mccole, Son C. Nguyen, Wren Saylor, Eric F. Joyce, T. Niroshini Senaratne, Mohammed A. Hannan, Guy Nir, Job Dekker, Leonid A. Mirny, C-Ting Wu Oct 2019

The Genome-Wide Multi-Layered Architecture Of Chromosome Pairing In Early Drosophila Embryos, Jelena Erceg, Jumana Alhaj Abed, Anton Goloborodko, Bryan R. Lajoie, Geoffrey Fudenberg, Nezar Abdennur, Maxim Imakaev, Ruth B. Mccole, Son C. Nguyen, Wren Saylor, Eric F. Joyce, T. Niroshini Senaratne, Mohammed A. Hannan, Guy Nir, Job Dekker, Leonid A. Mirny, C-Ting Wu

Program in Systems Biology Publications

Genome organization involves cis and trans chromosomal interactions, both implicated in gene regulation, development, and disease. Here, we focus on trans interactions in Drosophila, where homologous chromosomes are paired in somatic cells from embryogenesis through adulthood. We first address long-standing questions regarding the structure of embryonic homolog pairing and, to this end, develop a haplotype-resolved Hi-C approach to minimize homolog misassignment and thus robustly distinguish trans-homolog from cis contacts. This computational approach, which we call Ohm, reveals pairing to be surprisingly structured genome-wide, with trans-homolog domains, compartments, and interaction peaks, many coinciding with analogous cis features. We also find a ...


Mutations In The Sptlc1 Gene Are A Cause Of Amyotrophic Lateral Sclerosis That May Be Amenable To Serine Supplementation, Janel O. Johnson, Ruth Chia, Robert H. Brown Jr., John E. Landers Sep 2019

Mutations In The Sptlc1 Gene Are A Cause Of Amyotrophic Lateral Sclerosis That May Be Amenable To Serine Supplementation, Janel O. Johnson, Ruth Chia, Robert H. Brown Jr., John E. Landers

University of Massachusetts Medical School Faculty Publications

SPTLC1 encodes a critical subunit of serine palmitoyltransferase, the enzyme catalyzing the first and rate-limiting step in de novo sphingolipid biosynthesis, and mutations in this gene are known to cause hereditary sensory autonomic neuropathy, type 1A. Using exome sequencing, we identified a de novo variant in SPTLC1 resulting in a p.Ala20Ser amino acid change in an individual diagnosed with juvenile-onset amyotrophic lateral sclerosis (ALS) and confirmed its pathogenicity by showing elevated plasma levels of neurotoxic deoxymethyl-sphinganine. A second case of juvenile-onset ALS arising again from a p.Ala20Ser mutation was later identified, confirming the association of SPTLC1 with this ...


9th Annual Postdoctoral Science Symposium, University Of Texas Md Anderson Cancer Center Postdoctoral Association Sep 2019

9th Annual Postdoctoral Science Symposium, University Of Texas Md Anderson Cancer Center Postdoctoral Association

MD Anderson Cancer Center Postdoctoral Association Annual Postdoctoral Science Symposium Abstracts

The mission of the Annual Postdoctoral Science Symposium (APSS) is to provide a platform for talented postdoctoral fellows throughout the Texas Medical Center to present their work to a wider audience. The MD Anderson Postdoctoral Association convened its inaugural Annual Postdoctoral Science Symposium (APSS) on August 4, 2011.

The APSS provides a professional venue for postdoctoral scientists to develop, clarify, and refine their research as a result of formal reviews and critiques of faculty and other postdoctoral scientists. Additionally, attendees discuss current research on a broad range of subjects while promoting academic interactions and enrichment and developing new collaborations.


Signaling To Trp53 And Tap63 From Chk1/Chk2 Is Responsible For Elimination Of Most Oocytes Defective For Either Chromosome Synapsis Or Recombination, Vera D. Rinaldi, Jordana C. Bloom, John C. Schimenti Sep 2019

Signaling To Trp53 And Tap63 From Chk1/Chk2 Is Responsible For Elimination Of Most Oocytes Defective For Either Chromosome Synapsis Or Recombination, Vera D. Rinaldi, Jordana C. Bloom, John C. Schimenti

University of Massachusetts Medical School Faculty Publications

Eukaryotic organisms have evolved mechanisms to prevent the accumulation of cells bearing genetic aberrations. This is especially crucial for the germline, because fecundity, and fitness of progeny would be adversely affected by an excessively high mutational incidence. The process of meiosis poses unique problems for mutation avoidance, due to the requirement for SPO11-induced programmed double strand breaks (DSBs) in recombination-driven pairing and segregation of homologous chromosomes. Mouse meiocytes bearing unrepaired meiotic DSBs or unsynapsed chromosomes are eliminated before completing meiotic prophase I. In previous work, we showed that checkpoint kinase 2 (CHK2; CHEK2), a canonical DNA damage response protein, is ...