Medical Genetics Commons^™

Genetic Control Of Eye Development, A Case Study Focused On The Murine Mutation Belly Spot And Tail (Bst), Qing Tang

Theses and Dissertations (ETD)

Development of the eye is controlled by a network of genes, often conserved, that regulate the timing and location of cellular differentiation. One approach to understanding this network of genes and their interaction is to focus on mutations, spontaneous or induced, that predictably disrupt the proper function of such networks, and by examining the effect of such disruption on the function of other genes.

The Belly spot and tail (Bst) semi-dominant mutation, mapped to mouse Chromosome 16, leads to developmental defects of the eye, skeleton, and coat pigmentation. In the eye, the mutant phenotype is characterized by the presence of …

Differential Transcription Of The Tcpph Operon Confers Biotype-Specific Control Of The Vibrio Cholerae Toxr Virulence Regulon, Yvette M. Murley, Patricia A. Carroll, Karen Skorupski, Ronald K. Taylor, Stephen B. Calderwood

Dartmouth Scholarship

Epidemic strains of Vibrio cholerae O1 are divided into two biotypes, classical and El Tor. In both biotypes, regulation of virulence gene expression depends on a cascade in which ToxR activates expression of ToxT, and ToxT activates expression of cholera toxin and other virulence genes. In the classical biotype, maximal expression of this ToxR regulon in vitro occurs at 30 degrees C at pH 6.5 (ToxR-inducing conditions), whereas in the El Tor biotype, production of these virulence genes only occurs under very limited conditions and not in response to temperature and pH; this difference between biotypes is mediated at the …

Interaction Between Fgf And Bmp Signaling Pathways Regulates Development Of Metanephric Mesenchyme., Andrew T. Dudley, R. E. Godin, E. J. Robertson

Journal Articles: Genetics, Cell Biology & Anatomy

Nephrogenesis in the mouse kidney begins at embryonic day 11 and ends approximately 10 days postpartum. During this period, new nephrons are continually being generated from a stem-cell population-the nephrogenic mesenchyme-in response to signals emanating from the tips of the branching ureter. Relatively little is known about the mechanism by which the nephrogenic mesenchyme cell population is maintained at the tips of the ureter in the presence of signals promoting tubulogenesis. Previous studies have shown that a loss of Bmp7 function leads to kidney defects that are a likely result of progressive loss of nephrogenic mesenchyme by apoptosis. The studies …

Interpreting Patterns Of Gene Expression With Self-Organizing Maps: Methods And Application To Hematopoietic Differentiation, Pablo Tamayo, Donna Slonim, Jill Mesirov, Qing Zhu, Sutisak Kitareewan, Ethan Dmitrovsky

Dartmouth Scholarship

Array technologies have made it straightforward to monitor simultaneously the expression pattern of thousands of genes. The challenge now is to interpret such massive data sets. The first step is to extract the fundamental patterns of gene expression inherent in the data. This paper describes the application of self-organizing maps, a type of mathematical cluster analysis that is particularly well suited for recognizing and classifying features in complex, multidimensional data. The method has been implemented in a publicly available computer package, GENECLUSTER, that performs the analytical calculations and provides easy data visualization. To illustrate the value of such analysis, the …

Nuclear Receptor Co-Repressor Gene Localizes To 17p11.2, A Frequently Deleted Band In Malignant Disorders, Michael W. Stacey, Jianxiang Wang, Rebecca L. Byrd, Johnson M. Liu, William G. Kearns

Bioelectrics Publications

The t(8;21) between the AML1 and ETO genes is a commonly seen genetic alteration in acute myeloid leukemia. Recently, we reported that the fusion partner ETO binds to the human nuclear receptor co-repressor (NCOR), a member of the NCOR/SIN3/histone deacetylase complex. This complex mediates transcriptional repression as a result of chromatin remodeling. Here, we used a combination of fluorescence in situ hybridization and hybrid panels to localize the human NCOR gene (NCOR) to chromosome band 17p11.2. The position of human NCOR on 17p11 raises the possibility of deranged transcriptional regulation in malignant disorders associated with deletions of 17p.

Aneuploidy Frequencies In Semen Fractions From Ten Oligoasthenoteratozoospermic Patients Donating Sperm For Intracytoplasmic Sperm Injection, Jerome Pfeffer, Myung-Geol Pang, Stanton F. Hoegerman, Christopher J. Osgood, M. W. Stacey, Jacob Mayer, Sergio Oehninger, William G. Kearns

Biological Sciences Faculty Publications

Objective: To determine aneuploidy frequencies in pellet and swim-up semen fractions from 10 infertile men with severe oligoasthenoteratozoospermia (OAT) who were donating sperm for intracytoplasmic sperm injection and to determine whether the swim-up isolation method would successfully separate aneuploid from haploid sperm.

Design: Prospective study.

Setting: Infertility clinic and molecular genetics laboratory.

Patient(s): Ten patients with severe OAT.

Intervention(s): Cytogenetic analyses by fluorescence in situ hybridization to determine aneuploidy frequencies for chromosomes 1, 13, 18, 21, X, and Y in sperm from swim-up and pellet fractions.

Main Outcome Measure(s): Gametic aneuploidy was scored in sperm fractions separated by the swim-up …