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You searched for subject:(Alternative Splicing lt). Showing records 1 – 3 of 3 total matches.

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1. Debenedittis, Paige. Characterization Of Tbx20 Isoforms And Protein Interactions In Heart Development.

Degree: 2011, University of Alabama – Birmingham

Proper cardiogenesis is critical for the development of vertebrates. Abnormalities in cardiogenesis can lead to congenital heart defects (CHDs), which occur in approximately 1% of live births. The cardiac transcription factor network contains different transcription factor families which direct the expression of critical cardiac genes. Determining how the cardiac transcription factors are regulated will provide insight in the mechanisms of cardiogenesis and CHDs. The T-box (TBX) transcription factor family is an ancient gene family important for development. Several TBX genes are expressed within the developing heart and play critical roles in differentiation, proliferation, and morphogenesis. One important TBX protein is TBX20, which is critical for cardiogenesis in mice. In humans, missense mutations in TBX20 have been found in patients with congenital heart defects. Characterization of modifiers of TBX20 activity will help elucidate the genetic mechanisms of heart development and CHDs. A yeast two-hybrid screen using an embryonic mouse heart cDNA library and TBX20b as bait was used to identify protein interactions. This led to the identification of an interaction with muskelin (MKLN1), a primarily cytoplasmic protein with potential roles in scaffolding of signal transduction machinery and nucleocytoplasmic protein shuttling. MKLN1 directly binds to the T-box DNA-binding domain of only the TBX20b isoform by its kelch repeats domain. Immunostaining of transfected cells revealed colocalization within the cytoplasm; however, there was no change in subcellular localization of TBX20b by overexpression of MKLN. Immunohistochemistry staining of embryonic mouse hearts indicated coexpression in the endocardial valvular and myocardial interventricular cells. This study identified and characterized a novel protein interaction with the potential to regulate TBX20 activity.The TBX transcription factor family includes many important regulators of vertebrate development. Currently, three TBX genes are alternatively spliced into different isoforms. This chapter reviews the importance of the cardiac transcription factor network and emphasizes the need for isoform-specific expression and functionalanalyses. Overall, this dissertation helps to define the cardiac transcription factor network and highlights the importance of isoforms and interacting proteins.

PhD

1 online resource (xii, 101 pages) :illustrations

Genetics

heart development, MKLN1, protein-protein interaction, T-box transcription factors, TBX20

UNRESTRICTED

Advisors/Committee Members: Kai Jiao, Bullard,Daniel Chang,Chenbei Klug,Christopher Serra,Rosa.

Subjects/Keywords: Alternative Splicing<; br>; Cell Adhesion Molecules – metabolism.<; br>; Heart – embryology<; br>; Intracellular Signaling Peptides and Proteins – metabolism.<; br>; Organogenesis – genetics.<; br>; T-Box Domain Proteins – genetics.<; br>; T-Box Domain Proteins – metabolism.

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Debenedittis, P. (2011). Characterization Of Tbx20 Isoforms And Protein Interactions In Heart Development. (Thesis). University of Alabama – Birmingham. Retrieved from http://contentdm.mhsl.uab.edu/u?/etd,1519

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Debenedittis, Paige. “Characterization Of Tbx20 Isoforms And Protein Interactions In Heart Development.” 2011. Thesis, University of Alabama – Birmingham. Accessed October 27, 2020. http://contentdm.mhsl.uab.edu/u?/etd,1519.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Debenedittis, Paige. “Characterization Of Tbx20 Isoforms And Protein Interactions In Heart Development.” 2011. Web. 27 Oct 2020.

Vancouver:

Debenedittis P. Characterization Of Tbx20 Isoforms And Protein Interactions In Heart Development. [Internet] [Thesis]. University of Alabama – Birmingham; 2011. [cited 2020 Oct 27]. Available from: http://contentdm.mhsl.uab.edu/u?/etd,1519.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Debenedittis P. Characterization Of Tbx20 Isoforms And Protein Interactions In Heart Development. [Thesis]. University of Alabama – Birmingham; 2011. Available from: http://contentdm.mhsl.uab.edu/u?/etd,1519

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

2. Boddu, Ravindra. Characterizing The Transcriptional Complexity Of Pkhd1/pkhd1.

Degree: 2012, University of Alabama – Birmingham

Mutations in <italic>PKHD1</italic> gene cause autosomal recessive polycystic kidney disease. Our previous studies have shown that human <italic>PKHD1</italic> and its mouse orthologue, <italic>Pkhd1</italic>, undergo an extensive pattern of alternative splicing. <italic>Pkhd1</italic> is primarily expressed in renal and biliary tubular structures. Translation products of these alternative spliced transcripts are predicted to generate isoforms expressed in plasma membrane, primary cilium and cytoplasm. We have characterized the cyli mouse model of ARPKD and identified a frameshift mutation, c.7589delGGinsT, in <italic>Pkhd1</italic> exon 48. In this thesis we have characterized the mouse <italic>Pkhd1</italic><super>cyli/cyli</super> model (liver restricted phenotype) and evaluated the transcriptome in terms of alternative exon usage and alternative splicing events. We observed that the <italic>Pkhd1</italic> transcriptional profiles were different in 18.5dpc embryonic kidney, liver and placenta as well as in multiple adult tissues. We have evaluated 41 kidney transcripts showing different patterns of <italic>Pkhd1</italic> exons splicing for WT and MUT kidney transcripts. Majority of the splicing events involved exon 6. All the transcripts analyzed appeared to preserve the amino acid sequence of the <italic>Pkhd1</italic> longest open reading frame, most of them using the original translation start site in exon 2, same as for the WT full length <italic>Pkhd1</italic>. All the novel exon junctions have been verified by RT-PCR. RNA-Seq studies in IMCD cells employing target enrichment strategy confirmed virtually all of the novel exon junctions observed in our catalogue. Analyses of exonic splice enhancers using bioinformatics and minigene experiments revealed consensus positions for serine/arginine-rich proteins (SR) that influence alternative exon usage. Site-directed mutagenesis and minigene experiments showed the importance of intronic splice enhancers and polypyrimidine tract in <italic>Pkhd1</italic> splicing. Preparation of translationally active mRNA from membrane-bound polysomal fraction showed that <italic>Pkhd1</italic> transcripts with novel exon junctions were polysome-bound and hence likely to be involved in the process of translation. Evaluation of human missense variants from Aachen mutation database for ARPKD revealed that R760H variant alters <italic>PKHD1</italic> splicing by disrupting one of the SR protein motifs. Taken together, our data demonstrate <italic>PKHD1/Pkhd1</italic> transcriptional processing is modulated in part by intragenic factors and dysregulated <italic>PKHD1</italic> splicing represents an under-appreciated pathogenic mechanism in ARPKD.

PhD

1 online resource (x, 148, [10] pages) :illustrations

Cell Biology

alternative splicing, ARPKD, kidney transcripts, mouse model, splicing…

Advisors/Committee Members: Lisa M. Guay-Woodford, Agarwal,Anupam Yoder, Bradley K. Serra, Rosa A. Bebok,Zsuzsanna.

Subjects/Keywords: Alternative Splicing<; br>; Disease Models, Animal<; br>; Kidney Tubules, Collecting – metabolism.<; br>; Polycystic Kidney, Autosomal Recessive – genetics.<; br>; Receptors, Cell Surface – genetics.<; br>; Translocation, Genetic

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Boddu, R. (2012). Characterizing The Transcriptional Complexity Of Pkhd1/pkhd1. (Thesis). University of Alabama – Birmingham. Retrieved from http://contentdm.mhsl.uab.edu/u?/etd,1504

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Boddu, Ravindra. “Characterizing The Transcriptional Complexity Of Pkhd1/pkhd1.” 2012. Thesis, University of Alabama – Birmingham. Accessed October 27, 2020. http://contentdm.mhsl.uab.edu/u?/etd,1504.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Boddu, Ravindra. “Characterizing The Transcriptional Complexity Of Pkhd1/pkhd1.” 2012. Web. 27 Oct 2020.

Vancouver:

Boddu R. Characterizing The Transcriptional Complexity Of Pkhd1/pkhd1. [Internet] [Thesis]. University of Alabama – Birmingham; 2012. [cited 2020 Oct 27]. Available from: http://contentdm.mhsl.uab.edu/u?/etd,1504.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Boddu R. Characterizing The Transcriptional Complexity Of Pkhd1/pkhd1. [Thesis]. University of Alabama – Birmingham; 2012. Available from: http://contentdm.mhsl.uab.edu/u?/etd,1504

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

3. Lamani, Ejvis. Mechanism Of Nfi-C Functionin During Tooth Root Formation.

Degree: 2012, University of Alabama – Birmingham

Currently, very little is known regarding tissue-specific gene regulation during the later stages of tooth development, especially those associated with root formation. Re-cent studies have identified nuclear factor I-C (NFI-C) as a critical factor for root for-mation in mammals. NFI-C functions as a cellular transcription factor and adenovirus DNA replication factor. Its role in root formation first became evident when Nfi-c null mice were shown to lack molar roots. A similar phenotype of incomplete or absent root formation is observed in patients with the autosomal dominant disease Radicular Dentin Dysplasia (RDD; MIM125400) also known as Rootless Teeth or Dentin Dysplasia Type I. In humans, the NFI-C gene is alternatively spliced and NFI-C2 was the most abundant transcript of the three isoforms we identified in dental and non-dental cells/tissues. The C-terminus, believed to act as a transcript modulator domain, is unique in the case of the NFI-C2 protein. We mapped the temporal-spatial expression of this isoform during mouse tooth development. NFI-C2 was mainly detected in the mesenchymal tissues dur-ing the earlier stages of tooth formation, at the epithelial-mesenchymal interface. As the tooth organ progresses further, an increased staining is seen within the enamel secreting ameloblasts and dentin forming odontoblasts and later on in the Hertwig's epithelial root sheath, which is important in root development. In human dental cells NFI-C2 is local-ized not only within the nucleus, but is also associated with the Golgi apparatus in the cytoplasm. Finally, our laboratory has identified several consanguineous families with a novel autosomal recessive (AR) form of RDD, leading to premature exfoliation both de-ciduous and permanent dentitions. DNA analysis of these AR RDD families revealed a common 3' untranslated region (UTR) NFI-C mutation. This mutation, contained within an element highly conserved across all available species, results in decreased NFI-C mRNA levels and stability and disruption of normal cellular localization. These studies demonstrate that the NFI-C gene is regulated in part by a conserved element contained within the 3' UTR region of the gene and that a mutation in this regulatory element re-sults in disruption of normal NFI-C expression altering normal signaling cascades for root formation.

PhD

1 online resource (xv, 115 pages) :illustrations

Microbiology

NFI-C, Radicular Dentin Dysplasia, Root Formation

UNRESTRICTED

Advisors/Committee Members: Mary MacDougall, Chaplin, David D. Chen,Shuo Kearney, John F. Thomas, Huw F..

Subjects/Keywords: Alternative Splicing – genetics.<; br>; Gene Expression Profiling<; br>; NFI Transcription Factors – genetics.<; br>; Organ Specificity – genetics.<; br>; Protein Isoforms<; br>; Tooth Root – growth & development.

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Lamani, E. (2012). Mechanism Of Nfi-C Functionin During Tooth Root Formation. (Thesis). University of Alabama – Birmingham. Retrieved from http://contentdm.mhsl.uab.edu/u?/etd,1529

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Lamani, Ejvis. “Mechanism Of Nfi-C Functionin During Tooth Root Formation.” 2012. Thesis, University of Alabama – Birmingham. Accessed October 27, 2020. http://contentdm.mhsl.uab.edu/u?/etd,1529.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Lamani, Ejvis. “Mechanism Of Nfi-C Functionin During Tooth Root Formation.” 2012. Web. 27 Oct 2020.

Vancouver:

Lamani E. Mechanism Of Nfi-C Functionin During Tooth Root Formation. [Internet] [Thesis]. University of Alabama – Birmingham; 2012. [cited 2020 Oct 27]. Available from: http://contentdm.mhsl.uab.edu/u?/etd,1529.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Lamani E. Mechanism Of Nfi-C Functionin During Tooth Root Formation. [Thesis]. University of Alabama – Birmingham; 2012. Available from: http://contentdm.mhsl.uab.edu/u?/etd,1529

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

.