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Full-Text Articles in Genetics

Utilizing Multiplex Ligation-Dependent Probe Amplification To Detect Novel X-Linked Microduplications Which Cause Intellectual Disability, Dianne Cohn Dec 2008

Utilizing Multiplex Ligation-Dependent Probe Amplification To Detect Novel X-Linked Microduplications Which Cause Intellectual Disability, Dianne Cohn

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ABSTRACT
A number of conditions related to X-linked intellectual disabilities (XLID) are in part due to microduplications that are not visible cytogenetically. With the focus on Rho, Ras and Rab genes, a family of genes known to be associated with intellectual disabilities, were screened for dosage aberrations (Leeuwen, F. N. 1997), (Ng, E. L. 2008), (Gissen, P. 2007), (Gurkan, C. 2005). Cohorts of intellectually disabled ID individuals were explored with new technologies. These new technologies include comparative genomic hybridization (CGH), multiplex ligation dependent probe amplification (MLPA) and quantitative PCR (qPCR) (Madrigal, I. 2007), (Hermsen, M. A. 2005), (Morey, J. S. …


Functional Characterization Of Hexokinase-Like 1 (Hkl1) From Arabidopsis Thaliana, Abhijit Karve Dec 2008

Functional Characterization Of Hexokinase-Like 1 (Hkl1) From Arabidopsis Thaliana, Abhijit Karve

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Arabidopsis hexokinase1 (AtHXK1) is a moonlighting protein with roles in both glucose signaling and catalysis. In this study, we first cloned and characterized the six HXK related genes from Arabidopsis. Three of the six encoded proteins were shown not to phosphorylate hexoses and thus, are designated as hexokinase-like (HKL) proteins. Though they are only 50% identical to HXK1, the amino acid sequences of HKL1 and HKL2 both have well conserved glucose binding domains and other recognized structural elements. The possible basis for their lack of catalytic activity was further probed by site-directed mutagenesis and ultimately was attributed to a suite …


Insight Into The Origins Of The Rumex Acetosa Sex Chromosomes And Mechanisms Causing Dimorphism, Samuel Forrest May 2008

Insight Into The Origins Of The Rumex Acetosa Sex Chromosomes And Mechanisms Causing Dimorphism, Samuel Forrest

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Sex conferring chromosomes are subject to rapid change throughout evolution. Y-chromosomes (male determining) are subject to extensive chromatin remodeling and higher mutation rates than the autosomes being that recombination with the X chromosome is inhibited in many regions. The non-recombining regions comprise varying proportions of Y chromosomes from species to species and they are subject to mutation acquisition including both deletions and insertions. Recently it has been shown that these insertion mutations include repetitive DNA such as satellite DNA sequences (satDNA) and transposable elements. It is thought that Y chromosomes go through many rounds of expansion and contraction throughout evolution …


The Lss Supernodulation Mutant In Medicago Truncatula: Genetics, Characterization And Mapping, Arijit Mukherjee Dec 2007

The Lss Supernodulation Mutant In Medicago Truncatula: Genetics, Characterization And Mapping, Arijit Mukherjee

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The symbiotic association between legumes and nitrogen fixing rhizobia culminates in the formation of root nodules. Legumes control the extent of root nodule formation through a regulatory mechanism in which nodulating roots induce a shoot response that signals back to the roots, inhibiting further nodule initiation. Disruption of genes involved in this regulatory process lead to super or hypernodulation. The lss (like sunn supernodulator) mutant of Medicago truncatula has been identified as a naturally occurring supernodulation mutation in the Jemalong cultivar. The phenotype of lss is practically indistinguishable from the phenotype of the previously isolated sunn mutant with respect to …


Chloroplast Comparative Genomics: Implications For Phylogeny, Evolution, And Biotechnology, Christopher Saski Aug 2007

Chloroplast Comparative Genomics: Implications For Phylogeny, Evolution, And Biotechnology, Christopher Saski

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Lack of complete chloroplast genome sequences is still a limiting factor determining phylogenetic relationships, discerning evolutionary forces, and extending chloroplast genetic engineering to useful crops. Therefore, the chloroplast genomes from six economically important crops were isolated and sequenced. The results will have an impact on chloroplast biology and biotechnology.
The complete soybean chloroplast genome was compared to the other completely sequenced legumes, Lotus and Medicago. The rpl22 gene was found to be missing from all three legumes, a very informative phylogenetic marker. There is a single, large inversion changing the gene order in the legumes from the typical order found …


Functional Characterization Of Ectodysplasin-1 And Identification Of Novel Candidate Genes For Ectodermal Dysplasias And Associated Clinical Features, Bradley Griggs Aug 2007

Functional Characterization Of Ectodysplasin-1 And Identification Of Novel Candidate Genes For Ectodermal Dysplasias And Associated Clinical Features, Bradley Griggs

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Ectodermal dysplasias (ED) are a group of developmental disorders in which ectodermally derived structures are abnormally formed or absent entirely. The molecular signaling pathway controlling the differentiation of ectodermal appendages has been well documented in recent years. However, questions remain concerning the key signaling molecule of this pathway, ectodysplasin-1 (EDA), the identity of the EDA signaling pathway's target genes, and the presence of additional phenotypes observed in some patients.
Despite the intensive study of EDA in recent years, the functional significance of the N-terminal intracellular domain of ectodysplasin-1 (N-EDA) has remained elusive. The yeast two-hybrid system was employed to further …


Functional Genomics Of The Angiotensin Ii Type 2 Receptor In The Developing Brain, Traci Pawlowski Aug 2007

Functional Genomics Of The Angiotensin Ii Type 2 Receptor In The Developing Brain, Traci Pawlowski

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The mammalian brain expresses two angiotensin II specific receptors, the angiotensin II type 1 (AGTR1) and type 2 (AGTR2). Studies in humans and mice indicate a possible role for AGTR2 in learning, memory and behavior. However, AGTR2 gene function in the brain, and the molecular mechanisms by which AGTR2 exerts its physiological action, remains elusive. This study examines the possible role of AGTR2 in the developing brain and in brain function by employing three different approaches.
To identify genes in the developing brain that depend on AGTR2 function, a microarray analysis was conducted that compared the gene expression of Agtr2-/y …


Characterization Of Male Sterility And Polyploidy In Watermelon, Brent Alan Murdock Dec 1993

Characterization Of Male Sterility And Polyploidy In Watermelon, Brent Alan Murdock

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No abstract provided.