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2 edition of Molecular variation in the human elastin gene found in the catalog.

Molecular variation in the human elastin gene

Mark Christopher Raybould

Molecular variation in the human elastin gene

by Mark Christopher Raybould

  • 316 Want to read
  • 14 Currently reading

Published by University of Birmingham in Birmingham .
Written in English


Edition Notes

Thesis (Ph.D) - University of Birmingham, School of Biological Sciences, Faculty of Science, 1996.

Statementby Mark Christopher Raybould.
ID Numbers
Open LibraryOL17287205M

The book does not contain basic genetics and molecular biology, but rather topics from human genetics mainly from medical point of views. This book, Human Genetic Diseases contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to. human elastin cDNA has been isolated and sequenced (1). Early reports that ELN mapped to chromosome 2 proved mistaken; it maps to 7q (2) and has 34 exons. Comparative studies showed that the human cDNA lacks sequences corresponding to exons 34 and 35 of the bovine elastin gene, so that human exon 34 is homologous to bovine exon 36 (1).

Summary: This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. But human beings are by no means identical. Many traits, or observable charac-teristics, differ from one person to another. There is a great deal of variation in hair color, eye color, skin color, height, weight, personality traits, and other characteristics. Some human traits are transmitted biologi-cally, others culturally. The color of our.

THE JOURNAL OF BIOLOGICAL CHEMISTRY 0 by The American Society for Biochemistry and Molecular Biology, Inc Vol. , No. 15, Issue of pp. , Printed in (I S.A Characterization of the Complete Human Elastin Gene DELINEATION OF UNUSUAL FEATURES IN THE 5”FLANKING REGION* (Received for publication, Janu ).   Human breast tumours are diverse in their natural history and in their responsiveness to treatments1. Variation in transcriptional programs accounts for much of the biological diversity of human.


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Molecular variation in the human elastin gene by Mark Christopher Raybould Download PDF EPUB FB2

The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin.

Elastin is the major component of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and.

Molecular model of human tropoelastin and implications of associated mutations; Study implies that the rs variant in elastin gene polymorphisms might play crucial roles in the development and pathogenesis of intracranial aneurysms in Korean population. Degradation of tropoelastin and skin elastin by neprilysin.

Title: A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. In blood samples collected from the lumen of intracranial aneurysms, mean plasma level of soluble human elastin fragments was significantly greater in ruptured aneurysms when compared with.

Request PDF | Structure of the Elastin Gene | The isolation and characterization of cDNAs encompassing the full length of chicken, cow, rat and human elastin mRNA have led to the elucidation. The elastin gene is a single copy gene localized in chromosome 7 in humans and, under normal conditions, is expressed by various cell types during the pre- and neonatal stages of development.

The elastin gene product, tropoelastin, is a protein of to residues, and owing to numerous cDNA analyses, its full sequence is now known for the Cited by: Elastin is a key extracellular matrix (ECM) protein that provides resilience and elasticity to tissues and organs.

Elastin is roughly times more flexible than collagens; thus, the main function of elastin is the elasticity of tissues. It is the dominant protein in extensible tissues and is primarily present in the lungs, aorta, and skin. Alternative Splicing and Tissue-specific Elastin Misassembly Act as Biological Modifiers of Human Elastin Gene Frameshift Mutations Associated with Dominant Cutis Laxa.

Journal of Biological Chemistry(26), Molecular variation of the human elastin (ELN) gene in a normal human population. RAYBOULD; A. BIRLEY; Cladistic analysis of the apolipoprotein AI‐CIH‐AIV gene cluster using a healthy French Canadian sample. Haploid analysis.

HAVILAND; Books Received. Books received. Pages: ; First Published: 01 April ; PDF. Ciba Foundation Symposium - The Molecular Biology and Pathology of Elastic Tissues. Two overlapping clones encompassing kb of the human elastin gene were isolated from two genomic libraries constructed by partial digestion with either HaeIII/AluI or Sau3A and contained in lambda Charon 4A or EMBL3, respectively.

The 6 kb of DNA comprising the most 3' portion of the gene were sequenced demonstrating an extremely low coding ratio since only three exons containing a. Elastin is formed through the cross-linking of its soluble precursor tropoelastin.

Cross-linking is initiated through the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with other allysine or unmodified lysine residues result in various bi- tri- and tetrafunctional cross-links.

Molecular model of human tropoelastin and implications of associated mutations PMID: Study implies that the rs variant in elastin gene polymorphisms might play crucial roles in the development and pathogenesis of intracranial aneurysms in Korean population.

Structure of the elastin gene and alternative splicing of elastin mRNA: Implications for human disease. American Journal of Medical Genetics34 (1), Introductory seminar on the use of molecular tools in natural history collections - NovemberRMCA • Molecular phylogeny is based on the idea that there is a multi-level variation in the genetic information • This variation could be detected by using molecular genetic tools • The source of these variations are: • Gene.

Evolution - Evolution - Molecular evolution: The methods for obtaining the nucleotide sequences of DNA have enormously improved since the s and have become largely automated. Many genes have been sequenced in numerous organisms, and the complete genome has been sequenced in various species ranging from humans to viruses.

The use of DNA sequences has been particularly rewarding in the. Emanuel et al. () provisionally assigned the elastin gene to 2qqter. Fazio et al. () used human elastin cDNAs in both in situ hybridization and Southern analysis of human-rodent cell hybrids to map the elastin gene to 7q PCR analysis with elastin-specific primers of DNA from a hybrid cell line containing only human chromosome 7 yielded a product of the expected size, while DNA.

• Elastin gene point mutation in patients with inguinal hernia • An investigation of voice quality in individuals with inherited elastin deficiencies • Elastin Based Constructs; Lisa Nivison-Smith and Anthony Weiss You can find a blog post on this topic and direct links to the primary.

temporal variation with respect to the production of this poly­ peptide. Furthermore, some recent studies suggest that the regulation of production of elastin is a complex, and possibly hormonally-dependent phenomenon, An understanding of the molecular biology of the elastin will not only contribute to our understanding of the control of.

Ira Hall, Donald Conrad, the GTEx consortium and colleagues ident high-confidence structural variants (SVs) cis expression quantitative trait loci (eQTLs) across 13 human.

The effects of human recombinant interleukin (IL)-1 beta on elastin gene expression were studied in human skin fibroblast cultures by Northern hybridization and transient transfection experiments.

Incubation of the cells with IL-1 beta elevated the elastin mRNA steady-state levels by approximately 3-. A vol. in-8’, xiv + pp., many figs. and tabs., bibls., index. $ (bound). This is a comprehensive textbook of human genetics with many examples and pedigrees.

It is as up-to-date as any book in this rapidly burgeoning field can ever hope to be. Suggested exercises appear after each chapter.

Journal of Human Evolution () 1, Also, the mechanism of Elastin biosynthesis and gene regulation appears to be conserved in human and fish (ChungPerrin Our results show that 50% pomegranate seed oil also activates.Molecular genetics is a sub-field of biology that addresses how differences in the structures or expression of DNA molecules manifests as variation among organisms.

Molecular genetics often applies an "investigative approach" to determine the structure and/or function of genes in an organism’s genome using genetic screens. The field of study is based on the merging of several sub-fields in.