Genetics Commons^™

Role Of Sox11 During Vertebrate Ocular Morphogenesis And Retinal Neurogenesis, Lakshmi Shashidharan Pillai

Theses and Dissertations--Biology

Microphthalmia, anophthalmia, and coloboma (MAC) are distinct abnormalities demonstrating a continuum of developmental eye defects that contribute to 15-20% of blindness and severe vision deficiencies in children worldwide. The genetic etiology of MAC is large, complex and encompasses the whole developmental biology of the eye. Understanding how the eye develops will aid in identifying genes and developmental pathways involved in MAC. Although investigation of the genetic architecture of congenital anomalies is growing exponentially, much work remains to be accomplished to understand the complex, genetically heterogeneous congenital anomalies, which significantly impact childhood vision.

With an interest in elucidating the mechanisms that …

The Evolution Of Sex Determination And The Dmrt1 Gene In The Japanese Gecko (Gekko Japonicus), Lisa-Marie Mullen

All Master's Theses

There are different sex-determining mechanisms in our environment, which are separated into two groups known as genotypic sex determination (GSD) and environmental sex determination. The most well-known mechanism in the ESD group is temperature-dependent sex determination (TSD). In this study, the presence of the Doublesex and mab-3-related Transcription Factor (Dmrt1) gene was observed during embryonic development in geckos with a TSD mechanism. To do this, I observed the rate of transcription of the Dmrt1 gene in the Gecko species Gekko japonicus. Pregnant geckos were caught around Nanjing, China. Once the females laid their eggs, the eggs were …

Gene Expression And Alzheimer's Disease: Evaluation Of Gene Expression Patterns In Brain And Blood For An Alzheimer's Disease Mouse Model, Amanda Hazy

Senior Honors Theses

Previous studies have established a causative role for altered gene expression in development of Alzheimer’s disease (AD). These changes can be affected by methylation and miRNA regulation. In this study, expression of miRNA known to change methylation status in AD was assessed by qPCR. Genome-wide expression changes were determined by RNA-sequencing of mRNA from hippocampus and blood of control and AD mice. The qPCR data showed significantly increased expression of Mir 17 in AD, and sequencing data revealed 230 genes in hippocampus, 58 genes in blood, and 8 overlapping genes showing significant differential expression (p value ≤ 0.05). Expression data …

Increasing Knowledge About Alpha-1 Antitrypsin Deficiency In The Chronic Obstructive Pulmonary Disease Population, Maureen Ann Wentink Barta

Walden Dissertations and Doctoral Studies

The purpose of the project was to increase awareness about alpha-1 antitrypsin deficiency (AATD) in chronic obstructive pulmonary disease (COPD), particularly among those with a familial history of genetic factor AATD; an additional goal was to understand its relationship to COPD. COPD is the third leading cause of death in the United States, with more than half of COPD patients experiencing significant disabilities. Major causes for COPD include smoking, air pollution, secondary smoke, upper respiratory infections, hereditary factors, occupational factors, environmental factors, and socioeconomic factors. Genetic factors, however, also play a significant role in early onset COPD and in those …

Functional Analysis Of The Ovarian Cancer Susceptibility Locus At 9p22.2 Reveals A Transcription Regulatory Network Mediated By Bnc2 In Ovarian Cells, Melissa Buckley

USF Tampa Graduate Theses and Dissertations

GWAS have identified several chromosomal loci associated with ovarian cancer risk. However, the mechanism underlying these associations remains elusive. We identify candidate functional Single Nucleotide Polymorphisms (SNPs) at the 9p22.2 ovarian cancer susceptibility locus, several of which map to transcriptional regulatory elements active in ovarian cells identified by FAIRE-seq (Formaldehyde assisted isolation of regulatory elements followed by sequencing) and ChIP-seq (Chromatin Immunoprecipitation followed by sequencing) in relevant cell types. Reporter and electrophoretic mobility shift assays (EMSA) determined the extent to which candidate SNPs had allele specific effects. Chromosome conformation capture (3C) reveals a physical association between Basonuclin 2 (BNC2) and …

Primer Efficacy In The Dna Barcoding Of Spiders, Rhennetta Jo Bork

Honors Program Theses

DNA barcoding is the process of amplifying a 650 base pair segment of the sequence of the mitochondrial gene cytochrome c oxidase (COI), and amplifying this gene with a polymerase chain reaction (PCR). It is used to help identify and distinguish animal species and also to help determine genetic differences in species. DNA barcoding can be especially useful when working with spiders since they tend to be very small and hard to distinguish. However, achieving a DNA barcode can be difficult and thus techniques to improve the method of DNA barcoding can be helpful. This research looked into the different …

Exploring Birthparent’S Experiences Of Creating An Adoption Plan For Their Children With Special Needs, Sanjukta Tawde

Theses and Dissertations

Very little information is available regarding the experience and needs of families who create an adoption plan for their child with disability. The purpose of this study was to learn more about the experiences of birthparents who created an adoption plan after the diagnosis of Down syndrome so as to understand their needs during the process. Birthparents were invited to participate in the study through National Down Syndrome Adoption Network (NDSAN) by membership emails. Information about the study was made available on the organization’s website and social media pages. Potential participants also learned about the study from one of the …

Characterization Of Suspected Cyclic Di-Gmp Metabolizing Genes In Streptomyces Scabies, Bridget N. Bickers

Undergraduate Honors Thesis Projects

Streptomyces scabies is a bacterial plant pathogen responsible for a condition known as common scab in potatoes and other tuber crops. Aerial hyphae and spore development have been shown to be regulated by cyclic di-GMP (c-di-GMP) signaling in the non-pathogenic species Streptomyces coelicolor and Streptomyces venezuelae. The second messenger c-di-GMP is ubiquitous among bacteria and is connected to many functions such as: motility, virulence, and biofilm formation, but the effects of c-di-GMP signaling in other streptomycetes are unknown. The purpose of this study is to elucidate the function of the suspected S. scabies c-di-GMP phosphodiesterase genes SCAB11501 and SCAB27241 …