subject:(deleterious mutations)

1. Michot, Pauline. Utilisation des séquences de génome complet pour l'identification de mutations délétères responsables d'anomalies génétiques récessives chez le bovin. : Use of whole genome sequence data to identify new deleterious mutations associated to genetic defects in French dairy and beef cattle breeds.

Degree: Docteur es, Génétique animale, 2017, Paris Saclay

URL: http://www.theses.fr/2017SACLA011

►

L’effectif génétique réduit des races bovines entraîne une augmentation de consanguinité de l’ordre de 1% par génération et une forte dérive génétique. Cette évolution favorise… (more)

▼

L’effectif génétique réduit des races bovines entraîne une augmentation de consanguinité de l’ordre de 1% par génération et une forte dérive génétique. Cette évolution favorise l’émergence régulière d’anomalies génétiques récessives dans les populations, qu’elles soient de races laitières ou allaitantes. En France, l’Observatoire National des Anomalies Bovines (ONAB) a été créé dans le but de détecter et contrôler ces anomalies émergentes. Cependant, la détection par les observatoires sous-entend d’une part une diffusion large de l’allèle défavorable dans la population et d’autre part que l’anomalie présente un phénotype avec un tableau clinique spécifique permettant une déclaration du phénotype à l’ONAB. L’impact des anomalies génétiques est donc encore largement sous-estimé. Toutefois, le développement des technologies de génotypage et de séquençage de génomes, associés à l’ensemble des informations disponibles permet une détection efficace des mutations causales. Ainsi, l’objectif de cette thèse a été d’utiliser l’ensemble des données disponibles (phénotypes, génotypes, séquences, annotations fonctionnelles…) pour identifier et valider des mutations délétères ségrégant dans races bovines laitières et allaitantes françaises. Nous avons exploré différentes stratégies classiques - cartographies par homozygotie, haplotypes en déficit en homozygotes - qui gagnent en efficacité grâce aux données de séquence de génome complet (WGS). Nous avons également mis en place des approches alternatives de génétique inverse, basées sur l’exploitation des données WGS française et du consortium 1000 bull genomes.Les travaux réalisé ont permis d’identifier les mutations causales associées à deux syndromes récessifs rapportés à l’ONAB : l’épidermolyse bulleuse jonctionnelle en race Charolaise (ITGB4, g.chr19: g.56488278_56493087del) et d’épilepsie idiopathique (MTCL1, g.chr24:41661691 G>A) récemment émergée dans la race Parthenaise. Nous avons également démontré la forte association entre l’haplotype MH1 et un polymorphisme affectant le gène PFAS (Chr19:g.28511199C>T ; p.R1205C). Par les stratégies de génétique inverse, nous avons également identifié une mutation probablement responsable de mortalité embryonnaire en race Normande affectant le gène CAD (Chr11:g72399397, p.Y452C) ainsi qu’une mutation affectant le gène RP1 (Chr14:g.23995411_23995412insA, p. R791KfsX13) responsable d’une dégénérescence progressive de la rétine et qui ségrége à forte fréquence en race Normande mais aussi dans d’autres races bovines européennes. Ces études encore en cours, fournissent également un inventaire des variants génétiques potentiellement délétères dont la caractérisation de l’effet sur le phénotype pourra être explorée. Enfin, l’identification de ces anomalies et des mutations délétères responsables ont abouti à la mise à disposition de tests de diagnostic efficaces pour permettre une contre-sélection raisonnée de ces variants délétères dans les populations bovines.

The reduced genetic size of cattle breeds leads to an increase in inbreeding of…

Advisors/Committee Members: Boichard, Didier (thesis director).

Subjects/Keywords: Génomique; Mutations délétères; Anomalies; Bovins; Genomic; Deleterious mutations; Anomalies; Bovine; 576

Record Details Similar Records Cite « Share

❌

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

APA (6^th Edition):

Michot, P. (2017). Utilisation des séquences de génome complet pour l'identification de mutations délétères responsables d'anomalies génétiques récessives chez le bovin. : Use of whole genome sequence data to identify new deleterious mutations associated to genetic defects in French dairy and beef cattle breeds. (Doctoral Dissertation). Paris Saclay. Retrieved from http://www.theses.fr/2017SACLA011

Chicago Manual of Style (16^th Edition):

Michot, Pauline. “Utilisation des séquences de génome complet pour l'identification de mutations délétères responsables d'anomalies génétiques récessives chez le bovin. : Use of whole genome sequence data to identify new deleterious mutations associated to genetic defects in French dairy and beef cattle breeds.” 2017. Doctoral Dissertation, Paris Saclay. Accessed December 14, 2019. http://www.theses.fr/2017SACLA011.

MLA Handbook (7^th Edition):

Michot, Pauline. “Utilisation des séquences de génome complet pour l'identification de mutations délétères responsables d'anomalies génétiques récessives chez le bovin. : Use of whole genome sequence data to identify new deleterious mutations associated to genetic defects in French dairy and beef cattle breeds.” 2017. Web. 14 Dec 2019.

Vancouver:

Michot P. Utilisation des séquences de génome complet pour l'identification de mutations délétères responsables d'anomalies génétiques récessives chez le bovin. : Use of whole genome sequence data to identify new deleterious mutations associated to genetic defects in French dairy and beef cattle breeds. [Internet] [Doctoral dissertation]. Paris Saclay; 2017. [cited 2019 Dec 14]. Available from: http://www.theses.fr/2017SACLA011.

Council of Science Editors:

Michot P. Utilisation des séquences de génome complet pour l'identification de mutations délétères responsables d'anomalies génétiques récessives chez le bovin. : Use of whole genome sequence data to identify new deleterious mutations associated to genetic defects in French dairy and beef cattle breeds. [Doctoral Dissertation]. Paris Saclay; 2017. Available from: http://www.theses.fr/2017SACLA011

2. Balu, K. Studies of deleterious mutations on oca I iv genes and their structural and functional consequences; -.

Degree: Business School, 2014, VIT University

URL: http://shodhganga.inflibnet.ac.in/handle/10603/37784

Abstract avalible

Reference p.132 - 164 and Publication p.164

Advisors/Committee Members: Rituraj, purohit.

Subjects/Keywords: deleterious; mutations; Studies

…MIM 203100) is caused by mutations in the Tyrosinase gene (TYR, MIM 606933)… …et al., 1997). Mutations completely abolishing tyrosinase 18 activity result in… …OCA1A, while mutations rendering some enzyme activity result in OCA1B allowing some… …accumulation of melanin pigment over time. Almost 303 mutations in TYR are known (HGMD, 2013… …Mutations in the OCA2 gene (also known as P-gene) (MIM 203200) cause the OCA2…

3 more images…

Record Details Similar Records Cite « Share

❌

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

APA (6^th Edition):

Balu, K. (2014). Studies of deleterious mutations on oca I iv genes and their structural and functional consequences; -. (Thesis). VIT University. Retrieved from http://shodhganga.inflibnet.ac.in/handle/10603/37784

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

Chicago Manual of Style (16^th Edition):

Balu, K. “Studies of deleterious mutations on oca I iv genes and their structural and functional consequences; -.” 2014. Thesis, VIT University. Accessed December 14, 2019. http://shodhganga.inflibnet.ac.in/handle/10603/37784.

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

MLA Handbook (7^th Edition):

Balu, K. “Studies of deleterious mutations on oca I iv genes and their structural and functional consequences; -.” 2014. Web. 14 Dec 2019.

Vancouver:

Balu K. Studies of deleterious mutations on oca I iv genes and their structural and functional consequences; -. [Internet] [Thesis]. VIT University; 2014. [cited 2019 Dec 14]. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/37784.

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

Council of Science Editors:

Balu K. Studies of deleterious mutations on oca I iv genes and their structural and functional consequences; -. [Thesis]. VIT University; 2014. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/37784

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

Universitat de Valencia

3. Lalić, Jasna. Nonlinearities in plant RNA virus fitness .

Degree: 2012, Universitat de Valencia

URL: http://hdl.handle.net/10550/25037

► Una de las mayores amenazas tanto para la salud humana y animal, como para la agronomía es la emergencia de nuevas enfermedades infecciosas, la mayoría… (more)

▼ Una de las mayores amenazas tanto para la salud humana y animal, como para la agronomía es la emergencia de nuevas enfermedades infecciosas, la mayoría de las cuales están causadas por los virus de RNA. La emergencia viral es un problema complejo que consista en la adquisición de la variación genética, por mutación o recombinación, dentro de la población viral en el huésped reservorio la cual podría facilitar la capacidad de infectar de manera eficiente nuevos huéspedes. Los virus de RNA presentan a una evolucionabilidad extraordinaria por sus grandes tamaños poblacionales, cortos tiempos de generación y altas tasas de mutación y recombinación. Comprender los mecanismos evolutivos que podrían dar lugar a un virus emergente es imprescindible para hacer un diseño racional de las estrategias del control y las terapias antivirales. ¿Podríamos predecir la emergencia de un virus y su salto a un huésped nuevo sabiendo el fenotipo del virus, es decir, su eficacia biológica, en su huésped natural? Si es así, la arquitectura de la eficacia biológica del virus estaría determinada solamente por su genotipo (la componente G, o en otras palabras, la mutación) y el ambiente (la componente E o, en otras palabras, el huésped). Sin embargo, podrían existir interacciones entre estos componentes y comprometer la predictibilidad del fenotipo del virus en un huésped alternativo. Saber cómo las mutaciones afectan la eficacia biológica de las poblaciones virales es esencial para llegar a entender la emergencia viral y la posterior adaptación del nuevo virus a su nuevo hospedador. La observación común de que la mayoría de las mutaciones son deletéreas coincide con la predicción teorética de que un organismo ya está adaptado a su ambiente en particular, por lo cual, cualquier cambio genético supondría apartarse del fenotipo optimo. En realidad, este punto de vista es demasiado simplificado; los efectos mutacionales sobre la eficacia biológica constituyen un continuo y están condicionados tanto por el ambiente como por el fondo genético. Estos efectos se nombran comúnmente como interacción genotipo-ambiente (G×E), interacción genética (G×G o epistasia) e interacción G×G×E (epistasia-huésped). En esta Tesis, la contribución de estos componentes a la arquitectura de la eficacia biológica de un virus de RNA de la cadena positiva que infecta plantas, TEV. Los virus de RNA forman el grupo más grande de los virus de las plantas y causan muchas enfermedades económicamente importantes. En primer lugar, para inferir G×E, hemos caracterizado la distribución de los efectos mutacionales sobre la eficacia biológica (DMFE) de TEV utilizando una colección de veinte mutantes simples que tenían una única sustitución nucleotídica. Los efectos mutacionales se midieron en un conjunto de ambientes representados por ocho huéspedes distintos. Cinco de estos huéspedes pertenecían a la familia Solanaceae y se infectaban con TEV de la forma natural. Otros tres huéspedes pertenecían a otras tres familias de las plantas y eran parcialmente susceptibles a… Advisors/Committee Members: Elena Fito, Santiago F (advisor).

Subjects/Keywords: emerging viruses; virus evolution; deleterious mutations; genotype-by-environment; genome architecture; epistasis; fitness landscapes

Record Details Similar Records Cite « Share

❌

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

APA (6^th Edition):

Lalić, J. (2012). Nonlinearities in plant RNA virus fitness . (Doctoral Dissertation). Universitat de Valencia. Retrieved from http://hdl.handle.net/10550/25037

Chicago Manual of Style (16^th Edition):

Lalić, Jasna. “Nonlinearities in plant RNA virus fitness .” 2012. Doctoral Dissertation, Universitat de Valencia. Accessed December 14, 2019. http://hdl.handle.net/10550/25037.

MLA Handbook (7^th Edition):

Lalić, Jasna. “Nonlinearities in plant RNA virus fitness .” 2012. Web. 14 Dec 2019.

Vancouver:

Lalić J. Nonlinearities in plant RNA virus fitness . [Internet] [Doctoral dissertation]. Universitat de Valencia; 2012. [cited 2019 Dec 14]. Available from: http://hdl.handle.net/10550/25037.

Council of Science Editors:

Lalić J. Nonlinearities in plant RNA virus fitness . [Doctoral Dissertation]. Universitat de Valencia; 2012. Available from: http://hdl.handle.net/10550/25037

Université Montpellier II

4. Cailleau, Aurélie. Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale : Evolution of the genetic make-up of seed nutritives tissues.

Degree: Docteur es, Biologie des populations et écologie, 2010, Université Montpellier II

URL: http://www.theses.fr/2010MON20242

►

Chez les plantes à graine, l'albumen est un tissu nourricier surprenant, puisqu'il résulte de la double fécondation, qui est la fécondation concomitante de l'oosphère d'une… (more)

▼

Chez les plantes à graine, l'albumen est un tissu nourricier surprenant, puisqu'il résulte de la double fécondation, qui est la fécondation concomitante de l'oosphère d'une part, et de la cellule mère de l'albumen, la cellule centrale, d'autre part. Dans cette thèse, nous étudions les pressions de sélection qui déterminent l'évolution de l'albumen et pourraient expliquer l'évolution (1) de la double fécondation, (2) d'un doublement des contributions maternelles dans la cellule centrale, (3) de la polysporie, qui consiste en la participation de plusieurs produits de méiose à la formation du gamétophyte, et (4) de l'empreinte parentale, l'expression différentielle des allèles maternels et paternels.Ces innovations modifient l'hétérozygotie dans le tissu nourricier et par conséquent, ont le potentiel de changer l'hétérosis de la graine. Dans cette thèse, nous commençons par étudier comment les changements génétiques qui découlent de la double fécondation, du doublement des contributions maternelles, de la polysporie et de l'empreinte parentale modifient l'hétérosis, ce qui peut jouer en faveur ou en défaveur de leurs évolutions. Puis, nous faisons une revue des données disponibles dans la littérature pour tester si ces traits sont le résultat d'un conflit mâle-femelle sur l'allocation des ressources. Enfin, nous étudions de manière expérimentale les patrons de l'allocation des ressources chez le maïs, pour tester si les embryons sont en compétition pour les ressources, ce qui est une des conditions nécessaires pour qu'un conflit sur l'allocation des ressources ait lieu.Nos modèles théoriques nous permettent de décrire un conflit mâle-femelle sur l'exposition des allèles délétères dans les tissus pour lesquels l'expression des gènes est asymétrique. Ce conflit n'avait jamais été décrit auparavant, et ouvre de nouvelles perspectives pour la compréhension de l'évolution de l'expression génétique. L'analyse des données indique que les théories alternatives à la théorie du conflit sur l'allocation des ressources ont parfois un bon pouvoir explicatif, et méritent par conséquent d'être d'avantage explorées. Enfin, notre étude expérimentale sur le maïs montre que la compétition entre embryons est prédominante lors de l'allocation des ressources chez cette espèce, ce qui est concordant avec les prédictions de la théorie du conflit sur l'allocation.

In seed plants, the endosperm is a surprising nutritive tissue, because it results from double fertilization, an eccentricity which results from the parallel fertilization of the egg cell on the one hand, and of the mother cell of the endosperm, the central cell, on the other hand. In this thesis, we study the selective pressures which drive the evolution of the endosperm and may explain the evolution of (1) double fertilization, (2) a doubling of maternal contributions in the central cell, (3) polyspory, the participation of several meiotic products to the gametophyte and (4) imprinting, the differential expression of maternal and paternal alleles. These innovations modify…

Advisors/Committee Members: Lenormand, Thomas (thesis director), Cheptou, Olivier (thesis director).

Subjects/Keywords: Ressources; Mutations délétères; Allocation; Conflits; Empreinte parentale; Double fécondation; Resources; Deleterious mutations; Allocation; Conflicts; Genomic imprinting; Double fertilization

Record Details Similar Records Cite « Share

❌

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

APA (6^th Edition):

Cailleau, A. (2010). Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale : Evolution of the genetic make-up of seed nutritives tissues. (Doctoral Dissertation). Université Montpellier II. Retrieved from http://www.theses.fr/2010MON20242

Chicago Manual of Style (16^th Edition):

Cailleau, Aurélie. “Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale : Evolution of the genetic make-up of seed nutritives tissues.” 2010. Doctoral Dissertation, Université Montpellier II. Accessed December 14, 2019. http://www.theses.fr/2010MON20242.

MLA Handbook (7^th Edition):

Cailleau, Aurélie. “Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale : Evolution of the genetic make-up of seed nutritives tissues.” 2010. Web. 14 Dec 2019.

Vancouver:

Cailleau A. Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale : Evolution of the genetic make-up of seed nutritives tissues. [Internet] [Doctoral dissertation]. Université Montpellier II; 2010. [cited 2019 Dec 14]. Available from: http://www.theses.fr/2010MON20242.

Council of Science Editors:

Cailleau A. Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale : Evolution of the genetic make-up of seed nutritives tissues. [Doctoral Dissertation]. Université Montpellier II; 2010. Available from: http://www.theses.fr/2010MON20242

5. Lalić, Jasna. Nonlinearities in plant RNA virus fitness.

Degree: 2018, TDX

URL: http://hdl.handle.net/10803/568041

► One of the major threats to human and animal health as well as to agronomy is the emergence of new infectious diseases, most of which… (more)

▼ One of the major threats to human and animal health as well as to agronomy is the emergence of new infectious diseases, most of which are caused by RNA viruses. It is a complex, multilevel problem that consists in acquisition of genetic variation by mutation or recombination within a virus population in the reservoir host that would enable the host-switch. RNA viruses show a remarkable evolvability owed to their large population sizes, short generation times and high mutation and recombination rates. Understanding the underlying evolutionary mechanisms by which a virus may become an emergent one is pivotal for the rational design of control strategies and antiviral therapies. Thus, can virus emergence and jump to a new host species be predicted by knowing its phenotype, i.e., fitness, in its natural host? If so, then the architecture of virus fitness would be determined only by its genotype (the G component, i.e., mutation) and environment (the E component, i.e., host). Still, interactions between these components may exist and compromise the predictability of virus phenotype in an alternative host. How mutations affect the fitness of viral populations is essential to understanding viral emergence and adaptation to a new host. The widespread observation that the majority of mutations are deleterious coincides with the theoretical prediction that an organism will be well adapted to its particular environment, so that any genomic change would represent a move-away from the optimal phenotype. In reality, this view is overly simplified; mutational fitness effects constitute a continuum and are conditional upon the environment and genetic background; effects commonly referred to as genotype-by-environment (G×E) genetic (G×G or epistasis) and G×G×E (epistasis-by-host) interactions. In this Thesis the contribution of these components to the architecture of viral fitness was addressed using a plant positive sense RNA virus, TEV. RNA viruses form the largest group of plant viruses and cause many economically important diseases. First, to infer G×E, we characterized the distribution of mutational fitness effects (DMFE) for a collection of twenty single-nucleotide substitution mutants of TEV across a set of eight environments represented by different hosts. Five of these host species were naturally infected by TEV, all belonging to family Solanaceae, whereas other three were partially susceptible hosts belonging to three other plant families. First, we found a significant virus genotype-by-host species interaction, which was sustained by differences in genetic variance for fitness and the pleiotropic effect of mutations among hosts. Second, we found that the DMFEs were markedly different between Solanaceae and non-Solanaceae hosts. Exposure of TEV genotypes to non-Solanaceae hosts led to a large reduction of mean viral fitness, while the variance remained constant and skewness increased towards the right tail, thus containing a significant proportion of beneficial mutations. Within Solanaceae the tail of the… Advisors/Committee Members: Elena Fito, Santiago F., Departament de Genètica.

Subjects/Keywords: emerging viruses; virus evolution; deleterious mutations; genotype-by-environment; genome architecture; epistasis; fitness landscapes; UNESCO::CIENCIAS DE LA VIDA::Virología; UNESCO::CIENCIAS DE LA VIDA::Otras especialidades de la biología; UNESCO::CIENCIAS DE LA VIDA::Genética ::Genética de poblaciones

Record Details Similar Records Cite « Share

❌

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

APA (6^th Edition):

Lalić, J. (2018). Nonlinearities in plant RNA virus fitness. (Thesis). TDX. Retrieved from http://hdl.handle.net/10803/568041

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

Chicago Manual of Style (16^th Edition):

Lalić, Jasna. “Nonlinearities in plant RNA virus fitness.” 2018. Thesis, TDX. Accessed December 14, 2019. http://hdl.handle.net/10803/568041.

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

MLA Handbook (7^th Edition):

Lalić, Jasna. “Nonlinearities in plant RNA virus fitness.” 2018. Web. 14 Dec 2019.

Vancouver:

Lalić J. Nonlinearities in plant RNA virus fitness. [Internet] [Thesis]. TDX; 2018. [cited 2019 Dec 14]. Available from: http://hdl.handle.net/10803/568041.

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

Council of Science Editors:

Lalić J. Nonlinearities in plant RNA virus fitness. [Thesis]. TDX; 2018. Available from: http://hdl.handle.net/10803/568041

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

6. Zhang, Mingcai. The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster.

Degree: MS, Biological Sciences, 2010, Bowling Green State University

URL: http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1276892040

► Mutation and selection are responsible for major evolutionary changes in all organisms. Whether evolutionary processes are mainly driven by selection on preexisting genetic variation… (more)

Subjects/Keywords: Biology; Drosophila; new mutations; evolution; deleterious effect; beneficial effect; adaptation; heterozygotes

…x29;. In nature, most new mutations are deleterious. These genetic changes may or may not… …1950; Crow and Kimura, 1970). The accumulation of deleterious mutations can decrease the… …small populations due to deleterious mutations focused on the recessive alleles carried in the… …evidence suggested that the recurrent introduction of new deleterious mutations might pose a… …accumulation of new deleterious mutations and their synergistic interaction may cause the final…

10 more images…

Record Details Similar Records Cite « Share

❌

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

APA (6^th Edition):

Zhang, M. (2010). The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster. (Masters Thesis). Bowling Green State University. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1276892040

Chicago Manual of Style (16^th Edition):

Zhang, Mingcai. “The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster.” 2010. Masters Thesis, Bowling Green State University. Accessed December 14, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1276892040.

MLA Handbook (7^th Edition):

Zhang, Mingcai. “The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster.” 2010. Web. 14 Dec 2019.

Vancouver:

Zhang M. The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster. [Internet] [Masters thesis]. Bowling Green State University; 2010. [cited 2019 Dec 14]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1276892040.

Council of Science Editors:

Zhang M. The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster. [Masters Thesis]. Bowling Green State University; 2010. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1276892040

7. Λαδοπούλου, Άντζελα. Ανάλυση των γονιδίων BRCA1 και BRCA2 σε ελληνικές οικογένειες με ιστορικό καρκίνου μαστού - ωοθηκών: συσχέτιση του ρόλου των μεταλλάξεων με τη δομή και τη λειτουργία της πρωτεΐνης BRCA1.

Degree: 2003, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)

URL: http://hdl.handle.net/10442/hedi/22340

► Almost 30% of the total cases of breast cancer occurs in families with a positive history towards the disease (familial cancer), whereas the 70% occur… (more)

▼ Almost 30% of the total cases of breast cancer occurs in families with a positive history towards the disease (familial cancer), whereas the 70% occur in the absence of other cases (sporadic cancer). One third of the familial cancer cases can be attributed to mutations of certain genes (hereditary breast cancer syndrome). Mutations in the BRCA1 and BRCA2 genes predispose to hereditary breast and ovarian cancer. Our goal was to unravel the mutational spectrum of the BRCA1 and BRCA2 genes in Greek patients with family history of breast/ovarian cancer. Genomic DNA was purified from blood samples of 87 patients and it was screened using the Polymerase Chain Reaction and Direct DNA Sequencing. Deleterious mutations were identified in fifteen patients (~17%). Those mutations were also identified in all relatives-patients when samples were available. Eight of these families were carriers of BRCA1 mutations, whilst the remaining seven families were carriers of BRCA2 mutations. The 5382insC mutation in the BRCA1 gene -which is of high frequency in several East European countries-, has been found in four non-related families indicating an elevated frequency in the Greek population. Moreover, the mutations R1751X και 5586G>A were found in the BRCA1 gene and the mutations 2024del5, 3058delA, 4147delG, 6024delTA και 6631del5 were found in the BRCA2 gene. Mutations R1751X in the BRCA1 gene and 2024del5 και 4147delG in the BRCA2 gene, also demonstrate an elevated frequency as they have been all found twice in our pool of patients. The role of the mutation 5586G>A -a substitution of the last nucleotide of exon 23 in the BRCA1 gene- in the RNA splicing was further investigated. Total RNA was isolated from peripheral blood lymphocytes and it was used to produce cDNA using the reverse transcription technique. Amplification of the cDNA with specific primers showed that alternative splicing had occurred in the mutated copy of the gene, which would result in the production of a protein that is missing 51 amino acids with the final 10 amino acids different from those in the wild type protein sequence. Given the results, we conclude that exon 20 of the BRCA1 gene is highly variable in the greek population, so we propose that genetic screening of Greek patients should begin with this region. The missense mutation G1738R in the exon 20 of the BRCA1 gene has been found in four non-related families and there is evidence that it could be deleterious. The role of missense mutations, where individual amino acids are replaced, in the structure and function of the protein cannot be easily evaluated. In order to be able to characterize these mutations on a protein level, the carboxy-terminal region of BRCA1 gene -where more than 100 mutations have been identified- was cloned in a suitable vector and the corresponding protein was obtained in a highly soluble and stable form. Using gel filtration it was shown that the protein behaves as a monomer at pH 7.0 and as a dimmer at pH 9.0. Furthermore, the secondary and tertiary structure elements of the…

Subjects/Keywords: Κληρονομικός κακρίνος μαστού - ωοθηκών; Γονίδια προδιάθεσης; Ανάγνωση αλληλουχίας γενετικού υλικού; Παθογόνες μεταλλάξεις; Ιδρυτικές μεταλλάξεις; Ογκοκατασταλτικά γονίδια; Διεισδυτικότητα μεταλλάξεων; Hereditatry breast - ovarian cancer; Genetic predisposition; DNA sequencing; Deleterious mutations; Founder mutations; Tumour suppressor genes; Penetrance; BRCA1; BRCA2; BRCT

Record Details Similar Records Cite « Share

❌

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

APA (6^th Edition):

Λαδοπούλου, . �. (2003). Ανάλυση των γονιδίων BRCA1 και BRCA2 σε ελληνικές οικογένειες με ιστορικό καρκίνου μαστού - ωοθηκών: συσχέτιση του ρόλου των μεταλλάξεων με τη δομή και τη λειτουργία της πρωτεΐνης BRCA1. (Thesis). National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Retrieved from http://hdl.handle.net/10442/hedi/22340

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

Chicago Manual of Style (16^th Edition):

Λαδοπούλου, Άντζελα. “Ανάλυση των γονιδίων BRCA1 και BRCA2 σε ελληνικές οικογένειες με ιστορικό καρκίνου μαστού - ωοθηκών: συσχέτιση του ρόλου των μεταλλάξεων με τη δομή και τη λειτουργία της πρωτεΐνης BRCA1.” 2003. Thesis, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Accessed December 14, 2019. http://hdl.handle.net/10442/hedi/22340.

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

MLA Handbook (7^th Edition):

Λαδοπούλου, Άντζελα. “Ανάλυση των γονιδίων BRCA1 και BRCA2 σε ελληνικές οικογένειες με ιστορικό καρκίνου μαστού - ωοθηκών: συσχέτιση του ρόλου των μεταλλάξεων με τη δομή και τη λειτουργία της πρωτεΐνης BRCA1.” 2003. Web. 14 Dec 2019.

Vancouver:

Λαδοπούλου �. Ανάλυση των γονιδίων BRCA1 και BRCA2 σε ελληνικές οικογένειες με ιστορικό καρκίνου μαστού - ωοθηκών: συσχέτιση του ρόλου των μεταλλάξεων με τη δομή και τη λειτουργία της πρωτεΐνης BRCA1. [Internet] [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2003. [cited 2019 Dec 14]. Available from: http://hdl.handle.net/10442/hedi/22340.

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

Council of Science Editors:

Λαδοπούλου �. Ανάλυση των γονιδίων BRCA1 και BRCA2 σε ελληνικές οικογένειες με ιστορικό καρκίνου μαστού - ωοθηκών: συσχέτιση του ρόλου των μεταλλάξεων με τη δομή και τη λειτουργία της πρωτεΐνης BRCA1. [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2003. Available from: http://hdl.handle.net/10442/hedi/22340

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

		in
And / Or
		in
And / Or
		in
And / Or
		in

Open Access Theses and Dissertations