Die Entwicklung der Hypophyse ist ein komplexer Prozess, an dem viele Transkriptionsfaktoren beteiligt sind. Bedeutende Funktionen haben die Bone Morphogenetic Proteins 2, 4 und 7. Ziel der Arbeit war es, an Patienten mit angeborener kombinierter Hypophyseninsuffizienz diese 3 Gene auf Mutationen zu untersuchen. Dabei wurden die Exons, Exon-Intron-Übergänge sowie die 3`- und 5`-untranslatierten Regionen sequenziert. Neu identifizierte Varianten wurden anschließend in einer gesunden Kontrollkohorte untersucht, um pathogenetisch nicht relevante Genvarianten auszuschließen. Um die funktionelle Relevanz der Varianten beurteilen zu können, wurden phylogenetische Analysen und Untersuchungen mittels Programmen zum Einfluss auf die Proteinstruktur und -funktion durchgeführt. Neben bekannten Varianten, konnten wir neue Varianten mit und ohne Aminosäureaustausch identifizieren. Eine neue Mutation im kodierenden Bereich von BMP4 erschien dabei besonders relevant. Wir konnten sie nur bei einem Patienten nachweisen, der zusätzlich zur kombinierten Hypophyseninsuffizienz Skelettveränderungen aufwies. Die hohe Konservierung und diese spezifische Klinik legen eine funktionelle Relevanz nahe.

Kong Pui Shan. / Thesis submitted in: November 2004. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2005. / Includes bibliographical references (leaves 164-185). / Abstracts in English and Chinese. / Table of Contents --- p.i / List of Figures and Tables --- p.iii / List of Abbreviations --- p.viii / Chapter Chapter 1: --- Introduction --- p.1 / Chapter 1.1 --- Endocrine system and the pituitary gland in teleosts --- p.1 / Chapter 1.2 --- The biology of black seabream (Acanthopagrus schlegeli) --- p.4 / Chapter 1.3 --- Seasonal variation of gene expression in black seabream pituitary --- p.7 / Chapter 1.4 --- Expressed sequence tag (EST) analysis --- p.9 / Chapter 1.5 --- Basic Local Alignment Search Tool (BLAST) --- p.11 / Chapter 1.6 --- Aim of this study --- p.14 / Chapter Chapter 2: --- Materials and Methods --- p.15 / Chapter 2.1 --- Preliminary EST analysis of black seabream pituitary cDNA libraries --- p.15 / Chapter 2.2 --- Larger scale EST analysis of black seabream pituitary cDNA libraries --- p.19 / Chapter 2.3 --- "Northern blot analysis of gene expression levels of growth hormone (GH), prolactin (PRL), somatolactin (SL) and P-actin in adult female black seabream pituitaries" --- p.23 / Chapter 2.4 --- Real time-PCR analysis of seasonal expression of growth hormone family genes in black seabream pituitary --- p.25 / Chapter 2.5 --- Dot blot (miniarray) analysis of seasonal expression of different genes expressed in black seabream pituitary --- p.28 / Chapter Chapter 3: --- Preliminary EST Analysis of Black Seabream Pituitary cDNA Libraries --- p.30 / Chapter 3.1 --- Results and discussion --- p.30 / Chapter 3.1.1 --- EST analysis of black seabream pituitary cDNA libraries --- p.30 / Chapter 3.1.2 --- Full-length sequencing of different hormone genes of black seabream --- p.47 / Chapter Chapter 4: --- Larger Scale EST Analysis of Black Seabream Pituitary cDNA Libraries --- p.64 / Chapter 4.1 --- Results and discussion --- p.64 / Chapter 4.1.1 --- EST analysis of black seabream pituitary cDNA libraries --- p.64 / Chapter 4.1.2 --- Genes first time found in fish --- p.91 / Chapter Chapter 5: --- Analysis of Black Seabream Pituitary Gene Expressions in Pituitary Collected from Different Months --- p.103 / Chapter 5.1 --- Introduction --- p.103 / Chapter 5.2 --- Northern blot analysis of seasonal variation of growth hormone family genes --- p.105 / Chapter 5.3 --- Seasonal analysis of growth hormone family genes by real time-PCR --- p.110 / Chapter 5.4 --- Sexual maturity of black seabream throughout the reproductive cycle --- p.118 / Chapter 5.5 --- Seasonal analysis of black seabream pituitary genes by dot blot study --- p.119 / Chapter 5.6 --- Conclusion --- p.153 / Chapter Chapter 6: --- General Discussion --- p.154 / References --- p.164

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Thesis (Ph. D.)--University of Wisconsin--Madison, 1970. / Typescript. Vita. Includes bibliographical references.

Thesis (M.S.)--University of Wyoming, 2009. / Title from PDF title page (viewed on July 22, 2010). Includes bibliographical references (p. 74-91).

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