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Relevant bibliographies by topics / Chromosome inversions / Dissertations / Theses

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Dissertations / Theses on the topic 'Chromosome inversions'

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Published: 4 June 2021

Last updated: 18 February 2022

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1

Bhatt, Samarth. "Segregation analysis of paracentric inversions in human sperm." Montpellier 1, 2008. http://www.theses.fr/2008MON1T002.

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Les inversions paracentriques sont des anomalies chromosomiques généralement considérées comme inoffensives. Toutefois, des cas de porteurs de chromosomes remaniés issus d'inversions paracentriques ont été rapportés, soulignant la nécessité d'étudier le comportement méiotique de ces anomalies. Seules quelques études ont été pratiquées, utilisant la technique de fécondation croisée Homme-Hamster, le typage génétique des spermatozoïdes (sperm typing) ou l'hybridation in situ fluorescente (FISH) par marquages centromériques ou télomériques. Afin d'améliorer l'efficacité de l'étude méiotique des i

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2

Yue, Ying. "[Breakpoint analysis of human chromosome 3 inversions during hominoid evolution]." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=976057794.

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3

Chan, David Yiu Leung. "Analysis of artificial chromosomes and factors affecting stability in murine and human cultured and embryonic stem cells." Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.568074.

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Human Artificial Chromosomes (HAC) are fascinating extrachromosomal molecules that stay independently from the host genome and are capable of segregating as efficiently as endogenous chromosomes. It has been proven that HAC are potential tools for both basic chromosome behavioural research and agents for gene therapy purposes. My DPhil project is divided into two main themes. The first theme was to develop a novel artificial chromosome in mouse embryonic stem cells. The second theme was to understand the factors affecting chromosome stability which may also affect the efficiency of artificial

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4

Mautras, Albert. "Les inversions paracentriques du chromosome sept : à propos de deux observations." Bordeaux 2, 1989. http://www.theses.fr/1989BOR25067.

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5

Nanassy, Oliver Zoltan. "Genetic and biochemical analysis of the Salmonella typhimurium Hin DNA recombinase /." Thesis, Connect to this title online; UW restricted, 1999. http://hdl.handle.net/1773/11525.

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6

Rocha, Felipe Bastos 1981. "Pigmentação em Drosophila mediopunctata : plasticidade fenotipica e herdabilidade." [s.n.], 2007. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316971.

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Orientador: Louis Bernard Klaczko<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-08T11:40:37Z (GMT). No. of bitstreams: 1 Rocha_FelipeBastos_M.pdf: 1521732 bytes, checksum: 2e105d0f1d7044bc42e2f93125f6ac49 (MD5) Previous issue date: 2007<br>Resumo: Drosophila mediopunctata é uma espécie pertencente ao grupo tripunctata, que tem como traço marcante um padrão de pigmentação abdominal, sob a forma de três pintas na região mediana dos últimos tergitos. Nesta espécie, este padrão é variável, havendo indivíduos com quatro

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7

Garmendia, Eva. "A Unified Multitude : Experimental Studies of Bacterial Chromosome Organization." Doctoral thesis, Uppsala universitet, Institutionen för medicinsk biokemi och mikrobiologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-332471.

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Bacteria are many, old and varied; different bacterial species have been evolving for millions of years and show many disparate life-styles and types of metabolism. Nevertheless, some of the characteristics regarding how bacteria organize their chromosomes are relatively conserved, suggesting that they might be both ancient and important, and that selective pressures inhibit their modification. This thesis aims to study some of these characteristics experimentally, assessing how changes affect bacterial growth, and how, after changing conserved features, bacteria might evolve. First, we experi

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8

Todd, Roger Benedict. "Molecular analysis of a 7q inversion associated with myelodysplasia." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.248167.

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9

Fellmann, Florence. "Inversion paracentrique : marqueur ou anomalie ; a propos d'une inversion paracentrique du chromosome 13 transmise sur 5 generations d'une famille de 162 membres." Nancy 1, 1993. http://www.theses.fr/1993NAN11162.

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10

Nelson, Tanya N. "Molecular genetic analysis of human 8p inversion duplication chromosomes." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp02/NQ34598.pdf.

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11

Giner, Delgado Carla. "Large-scale evolutionary analysis of polymorphic inversions in the human genome." Doctoral thesis, Universitat Autònoma de Barcelona, 2017. http://hdl.handle.net/10803/459114.

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Les inversions cromosòmiques són variants estructurals on un fragment de genoma s'inverteix sense canviar-ne el contingut, i durant anys, els seus efectes subtils però importants han fascinat els biòlegs evolutius. De fet, les inversions van ser descobertes per primer cop fa cent anys en mosques de la fruita, i aviat es va fer evident la seva associació a processos evolutius com l'adaptació local i l'especiació. Tot i així, en el moment en què vivim de la genòmica i el big data, les inversions tendeixen a quedar fora de l'abast de les tecnologies més comunes i encara se sap poc d'elles. Durant

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12

Prinz, zu Salm-Horstmar Maximilian Philipp Albrecht. "The Chromosome 8p23.1 Inversion : High-Throughput Detection & Investigation of Phenotypic Impact." Thesis, Imperial College London, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.516479.

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13

Gutiérrez, Arumi Armand 1980. "Ancestral genomic submicroscopic inversions of human genome and their relation with multifactorial human diseases." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/454777.

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Significant advances were performed in mapping and characterizing different types of structural variation in the human genome such as point mutations, insertions, deletions, etc. Nevertheless, there is still an important genetic component in multifactorial diseases that it is still unknown. Inversions are chromosome mutations in which a given loci change its orientation respect to a reference and present a balanced genetic material (neutral copy number). Our group developed tools in order to infer some variants of ancestral submicroscopic inversions (0.5 Mb – 5Mb) using computational methods w

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14

Ruiz, Arenas Carlos 1990. "Methods and bioinformatic tools to study polymorphic inversions in complex diseases." Doctoral thesis, Universitat Pompeu Fabra, 2019. http://hdl.handle.net/10803/666582.

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Las inversiones cromosómicas son variantes estructurales donde un segmento de ADN cambia su orientación. Las inversiones cromosómicas reducen la recombinación homóloga y producen diferentes haplotipos en los cromosomas estándar e invertidos. Como resultado, influyen en la adaptación y la selección y desempeñan un papel en la susceptibilidad a las enfermedades humanas. Las inversiones se pueden estudiar con métodos experimentales y bioinformáticos. Los datos de SNP array se pueden usar para determinar genotipos de inversión mediante el uso de diferencias de haplotipos entre cromosomas invertid

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15

Lerga, Jaso Jon. "Integrative analysis of the functional consequences of inversions in the human genome." Doctoral thesis, Universitat Autònoma de Barcelona, 2019. http://hdl.handle.net/10803/669344.

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La variación estructural contribuye de forma substancial a la diversidad genética, pero su asociación con rasgos complejos y enfermedades no se entiende del todo y merece una caracterización detallada. Esto es especialmente cierto para las inversiones, cuyas consecuencias funcionales han permanecido ocultas, con algunas pocas excepciones. A pesar del creciente interés en caracterizar todo tipo de variantes genómicas, las inversiones se han dejado a menudo de lado debido a la presencia de regiones repetitivas en sus puntos de rotura sumado a su naturaleza balanceada. El proyecto InvFEST ha trat

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16

Entesarian, Miriam. "Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-100598.

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In summary, this thesis presents the localisation and identification of genetic variants of which some are disease associated and some considered to be neutral. Knowledge of the basic mechanisms behind human disorders is important both from a biological and medical point of view. The thesis is based on four papers of which the first two clarify the genetic basis of autosomal dominant aplasia of lacrimal and salivary glands (ALSG). ALSG is a rare disorder with high penetrance and variable expressivity characterized by dry mouth and eyes. In paper I, we located the ALSG gene to a 22 centiMorgan

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17

Delauney, Jean-Philippe. "Cartographie du chromosome 4p par des techniques de biologie moléculaire : étude d'une inversion-délétion du chromosome 4 chez une patiente présentant un syndrome de Wolf-Hirschhorn et une chorée." Bordeaux 2, 1996. http://www.theses.fr/1996BOR23030.

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18

Brooks, Samantha Ann. "STUDIES OF GENETIC VARIATION AT THE KIT LOCUS AND WHITE SPOTTING PATTERNS IN THE HORSE." UKnowledge, 2006. http://uknowledge.uky.edu/gradschool_diss/479.

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There are numerous different white spotting patterns in the horse, including two of particular interest tobiano and sabino. In the mouse, genetic variation in the gene KIT causes many white spotting patterns. Due to the phenotypic similarity among white spotting patterns in horses and mice, KIT was investigated as the cause of the tobiano and sabino spotting patterns in horses. Initially, the KIT cDNA sequences from horses with several spotting patterns were compared. Three single nucleotide polymorphisms (SNPs) were identified, though none were associated with a spotting pattern. Three novel

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19

Naseeb, Samina. "Molecular evolution in yeast : role of chromosomal inversions and translocations in speciation, adaptation and gene expression." Thesis, University of Manchester, 2011. https://www.research.manchester.ac.uk/portal/en/theses/molecular-evolution-in-yeast-role-of-chromosomal-inversions-and-translocations-in-speciation-adaptation-and-gene-expression(58fd85d1-fd26-426e-8643-482cd20447d4).html.

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Species belonging to the Saccharomyces ‘sensu stricto’ group present a good model for studying evolution due to their genetic versatility and availability of genomic data. Chromosomal rearrangements play a very important role in evolution of eukaryotes as well as prokaryotes as they can affect phenotypic characteristics and modes of speciation. In nature these rearrangements are most likely caused by highly mobile genetic elements, such as retrotransposons. Karyotypic changes can cause alterations in gene transcription causing genomic instabilities by inactivating or over-expressing particular

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20

Briault, Sylvain. "Inversion paracentrique cytogénétiquement équilibrée du chromosome x cosegregeant dans une famille avec une déficience mentale liée au sexe : approche moléculaire des points de cassure." Tours, 1997. http://www.theses.fr/1997TOUR3303.

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21

Wettwer, Marco [Verfasser], and Ortrud [Akademischer Betreuer] Steinlein. "Molekularzytogenetische Charakterisierung der perizentrischen Inversion des Chromosoms 9 : Bruchpunktanalyse und zusätzliche Strukturaberrationen / Marco Wettwer ; Betreuer: Ortrud Steinlein." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2017. http://d-nb.info/1148275827/34.

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22

Rouen, Alexandre. "Réarrangements chromosomiques chez l'homme : ségrégation des chromosomes à la méiose et procréation." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066735.

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Les translocations chromosomiques et les autres types de réarrangements peuvent, bien qu'associées à un phénotype normal, mener à la transmission d'un contenu génétique déséquilibré à la descendance. Il n'est pas possible de distinguer les chromosomes équilibrés des déséquilibrés, ce qui empêche toute sélection dans le cadre d'une fécondation in vitro (FIV). Nous avons ainsi mené une série de projets de recherche dont le but a été de mettre en évidence des caractéristiques spécifiques de ces spermatozoïdes déséquilibrés, afin de pouvoir les distinguer au cours d'une FIV. Nous avons montré que

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23

Puig, Giribets Marta. "Evolution of the hsp70 gene family at the nucleotide, genome organization and gene expression levels in Drosophila subobscura." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/663952.

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Nombrosos estudis han constatat el valor adaptatiu del ric polimorfisme d’inversions cromosòmiques al drosofíl· lid D. subobscura. No obstant això, fins ara es coneixien molt poc les bases moleculars que hi ha darrere del seu manteniment a les poblacions naturals. En cercar loci candidats, un experiment previ de xoc tèrmic va quantificar els nivells de la proteïna Hsp70 en soques homocariotípiques dels ordenaments OST, O3+4+8 i O3+4. Inesperadament, els individus de l’ordenament càlid O3+4 mostraven nivells incrementats d’aquesta proteïna, en absència d’estrès tèrmic, que no augmentaven

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24

François, Vincent. "Mise en evidence de regions non divisibles sur le chromosome d'escherichia coli : relation avec la terminaison de la replication." Toulouse 3, 1989. http://www.theses.fr/1989TOU30020.

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Mise en evidence d'organisations affectant des fractions importantes du chromosome bacterien, de structure polarisee le long de l'axe origine-terminus de replication. Les fourches de replication progressent a l'inverse de la normale et ont une velocite tres diminuee sur environ 20% du chromosome. Les zones contraintes pour la replication sont non divisibles par des inversions, ce sont des remaniements genomiques conservatifs. Chaque zone contrainte abrite au moins deux de ces sites de pause, de meme polarite et de sequences voisines. En utilisant un mutant "terminaison-moins", les auteurs ont

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25

Dolgova, Olga. "Genetic and phenotypic differentiation in three chromosomal arrangements of drosophila subobscura." Doctoral thesis, Universitat Autònoma de Barcelona, 2013. http://hdl.handle.net/10803/129183.

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Introducción El calentamiento global afecta de modo distinto a diferentes especies. Una de las especies en las que se ha documentado una respuesta genética a la adaptación térmica es Drosophila subobscura. Las clinas latitudinales en la frecuencia de muchas inversiones cromosómicas descritas en esta especie en las poblaciones originales del Paleártico y el descubrimiento de patrones clinales paralelos pocos años después de la colonización de América del Sur y del Norte han proporcionado una de las pruebas más convincentes de que las clinas de inversiones son el producto de la selección natu

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Calabria, Garcia Gemma. "Inversions cromosòmiques, clines i adaptació a "Drosophila suboscura": aproximació mitjançant marcadors moleculars." Doctoral thesis, Universitat de Barcelona, 2012. http://hdl.handle.net/10803/97297.

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Drosophila subobscura és una espècie amb un polimorfisme cromosòmic molt ric, adaptatiu i que actualment està responent al canvi climàtic. Malgrat això, encara es desconeixen els mecanismes selectius que mantenen les inversions a les poblacions i fan que aquestes siguin adaptatives. Existeixen tres hipòtesis descrites per tal d’explicar el manteniment de les inversions a les poblacions: la hipòtesi de la Coadaptació de Dobszhansky, la hipòtesi de la selecció supergènica de Wassermann i la hipòtesi de l’Adaptació local de Kirkpatrick i Barton. L’objectiu del present treball ha estat estudiar a

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27

Engelbrecht, Adriaan. "Phylogeography of the southern African vlei rat, Otomys irroratus, inferred from chromosomal and DNA sequence data." Thesis, Stellenbosch : University of Stellenbosch, 2010. http://hdl.handle.net/10019.1/5476.

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Thesis (MSc)--University of Stellenbosch, 2010.<br>ENGLISH ABSTRACT: This study examines the phylogeography of the southern African vlei rat, Otomys irroratus using the mtDNA cyt b gene and chromosomal data derived using G-, and C-banding, Ag-NOR staining and fluorescence in situ hybridization (FISH using flow sorts of Myotomys unisulcatus). A total of N = 102 specimens were used from the Western Cape, Eastern Cape, Northern Cape, Free State, Mpumalanga and KwaZulu-Natal provinces of South Africa. Of the N = 102, N = 55 comprised fresh material while N = 47 comprises museum material obtai

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28

Sun, Yu. "Genome Evolution of Neurospora tetrasperma." Doctoral thesis, Uppsala universitet, Evolutionsbiologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-207330.

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In this thesis work, I have used a comparative genomics approach to study a fungal model organism, Neurospora tetrasperma. My specific focus has been on genomic introgression, intron evolution, chromosomal structural rearrangements and codon usage. All of the studies are based on large-scale dataset generated by next-generation sequencing technology (NGS), combined with other techniques, such as Optical Mapping. In the introgression study, we detected large-scale introgression tracts in three N. tetrasperma lineages, and the introgression showed allele-specific and chromosomal-specific pattern

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Silva, Laura Helena Hafner da. "Variação morfologica em populações brasileiras de Drosophila melanogaster : variação latitudinal e temporal, herdabilidade e associação com inversões cromossomicas." [s.n.], 2006. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316970.

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Orientador: Louis Bernard Klaczko<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-08T02:56:34Z (GMT). No. of bitstreams: 1 Silva_LauraHelenaHafnerda_M.pdf: 2141945 bytes, checksum: 17c00d0d744de62b04cc274305caedb5 (MD5) Previous issue date: 2006<br>Resumo: O presente trabalho tem como objetivo caracterizar a variação do tamanho e forma das asas de populações de Drosophila melanogaster em três pontos ao longo de uma grande amplitude latitudinal na costa brasileira. O trabalho foi feito a partir de coletas realizadas n

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Hatadani, Luciane Mendes. "Sistematica molecular e variação morfometrica da asa de especies de Drosophila da radiação tripunctata." [s.n.], 2007. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316981.

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Orientadores: Louis Bernard Klaczko, Ana Maria L. Azeredo-Espin<br>Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-10T12:39:08Z (GMT). No. of bitstreams: 1 Hatadani_LucianeMendes_D.pdf: 5098763 bytes, checksum: ffd29b437b2e422e6d8f1797873032be (MD5) Previous issue date: 2007<br>Resumo: O grupo tripunctata e o segundo maior grupo neotropical de Drosophila em numero de espécies e foi incluído na radiação tripunctata ¿ que inclui outros grupos próximos. O segundo cromossomo de Drosophila medipunctata (espécie que pertence ao gru

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31

Chardard, Dominique. "Séquences homologues au gène sry et activité de l'aromatase lors de la différenciation du sexe des gonades et de leurs inversions sexuelles par la température ou par les hormones stéroïdes chez pleurodèles Waltl (Amphibien Urodèle)." Nancy 1, 1996. http://docnum.univ-lorraine.fr/public/SCD_T_1996_0118_CHARDARD.pdf.

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La détermination sexuelle chez les vertèbres repose sur différents mécanismes génétiques et epigenetiques. Chez les vertebres hétérothermes, la détermination du sexe de l'embryon ou de la larve par la température existe dans de nombreuses espèces. Chez l'amphibien pleurodèles waltl, une température d'élevage de 32c inverse le sexe des larves femelles génétiques. Cette inversion est fonctionnelle et permet ainsi l'obtention de thermoneomales phénotypiques. Nous avons étudié les bases génétiques de la détermination du sexe chez le pleurodèle en recherchant des gènes homologues de sry, déterminan

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Päällysaho, S. (Seliina). "Contribution of X chromosomal and autosomal genes to species differences in male courtship songs of the Drosophila virilis group species." Doctoral thesis, University of Oulu, 2001. http://urn.fi/urn:isbn:9514265831.

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Abstract In sympatric Drosophila species, songs produced by male wing vibration during courtship are an effective mechanism preventing interspecific matings and maintaining sexual isolation between different species. These songs can vary greatly even between closely related species. The aim of this study was to localise X chromosomal and autosomal genes affecting species differences in male courtship song and to study their interaction in the D. virilis group species. Various genes were probed by in situ hybridisation on the X chromosomes of six species of the group, which enabled us

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Dorazi, Robert. "Construction d'un modèle théorique de l'inversion sexuelle chez le pleurodèle : caractérisation d'un antigène ovocytaire (p55) chez pleurodèles waltl." Nancy 1, 1995. http://www.theses.fr/1995NAN10143.

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La première partie de cette thèse rappelle les résultats expérimentaux concernant l'influence de la température sur le sex ratio des populations de pleurodèles issues de croisements intra et interspécifiques. L’analyse de ces résultats a permis la construction d'un modèle théorique de l'inversion sexuelle chez pleurodèles waltl et pleurodèles poireti. Ce modèle postule notamment l'inactivation des chromosomes sexuels. L’action de la température sur la différenciation sexuelle du pleurodèle a tout d'abord suggéré une médiation des protéines de choc thermique (HSPS). Les premiers essais de mise

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34

Hayes, Matthew. "Algorithms to Resolve Large Scale and Complex StructuralVariants in the Human Genome." Case Western Reserve University School of Graduate Studies / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=case1372864570.

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35

Bosch, Pages Nina. "Duplicacions segmentàries a la regió cromosòmica humana 8P23.1: evolució i expansió d'una nova família gènica." Doctoral thesis, Universitat Pompeu Fabra, 2008. http://www.tdx.cat/TDX-0521109-141419.

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Les duplicacions segmentàries (DSs), o també anomenades duplicons o Low copy Repeats (LCRs), són regions de coma mínim 1 kb amb un alt nivell d'identitat (>90%), que estan presents almenys dues vegades en el genoma. La regió 8p23.1 consta de 6.5 Mb a la part distal del braç curt del cromosoma 8 i està flanquejada per duplicacions segmentàries. Degut a la seva arquitectura genòmica aquesta regió és susceptible a patir reordenaments mediats per recombinació homòloga no al·lèlica entre les DSs, com per exemple la inversió polimòrfica de 8p23.1 [inv(8)(p23)], present en un de cada quatre individus

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Guerrero, Rafael Felipe. "Models and analyses of chromosome evolution." 2013. http://hdl.handle.net/2152/21626.

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At the core of evolutionary biology stands the study of divergence between populations and the formation of new species. This dissertation applies a diverse array of theoretical and statistical approaches to study how chromosomes evolve. In the first chapter, I build models that predict the amount of neutral genetic variation in chromosomal inversions involved in local adaptation, providing a foundation for future studies on the role of these rearrangements in population divergence. In the second chapter, I use a large dataset of the geographic variation in frequency of a chromosomal inversion

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Yue, Ying [Verfasser]. "[Breakpoint analysis of human chromosome 3 inversions during hominoid evolution] / Ying Yue." 2005. http://d-nb.info/976057794/34.

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Casey, Graham M. "Linkage analysis of a kindred segregating an inversion of chromosome 3." 1991. http://hdl.handle.net/1993/17330.

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Cardoso, Manuela Pinto. "Molecular pathogenesis of a malformation syndrome associated with a pericentric chromosome 2 inversion." Master's thesis, 2017. http://hdl.handle.net/10451/27503.

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Tese de mestrado em Biologia Humana e do Ambiente, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, 2017<br>As síndromes de malformação congénitas são um dos principais grupos de patologias que afetam neonatos e crianças em países desenvolvidos. Muitos destes casos têm como base genética os arranjos genómicos ou cromossómicos. No entanto, por norma, devido à complexidade inerente às síndromes de malformação, é difícil e laborioso identificar com exatidão a alteração molecular que lhes deu origem. Aliado à inexistência atual de um genoma humano completamente anotado, torn

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Yang, Yeng-Yuh, and 楊永裕. "The interaction between chromosomal inversions and recessive let- hal alleles in Drosophila." Thesis, 1996. http://ndltd.ncl.edu.tw/handle/79712113701016105867.

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Henderson, Karen Gwen. "Characterization of an inversion duplication of human chromosome 8 by fluorescent in situ hybridization." Thesis, 1992. http://hdl.handle.net/2429/3323.

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A. de novo chromosomal aberration in a female with severe mental retardation and dysmorphic features has been characterized cytogenetically (Dill et al. 1987). The patient’s karyotype was described as 46,XX,inv dup(8)(p12→23.1). Previous Southern blot dosage analysis of the patient’ s DNA with a probe from the D8S7 locus, which maps to 8p23→8pter (Wood et al. 1986), demonstrated that the patient was monosomic for this locus. This dosage abnormality was interpreted as a consequence of the chromosomal rearrangement, suggesting that the aberrant chromosome was a duplication deficiency chr

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Alves, João Miguel Fernandes. "Understanding the impact of chromosomal inversion on the evolution of the human genome." Tese, 2014. https://repositorio-aberto.up.pt/handle/10216/77298.

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Alves, João Miguel Fernandes. "Understanding the impact of chromosomal inversion on the evolution of the human genome." Doctoral thesis, 2014. https://repositorio-aberto.up.pt/handle/10216/77298.

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Tung, Shih-Fan, and 董詩凡. "Association between Chromosomal Inversion Polymorphisms and Accumulation of Recessive Deleterious Mutations in Drosophila melanogaster." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/66773674668407138286.

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碩士<br>國立臺灣大學<br>生態學與演化生物學研究所<br>100<br>Chromosomal inversion polymorphisms have been demonstrated to play adaptive roles in natural populations by capturing local co-adapted alleles within recombination-suppressed regions of inversion heterozygotes. On the other hand, a less studied but important role of inversion polymorphisms is that recombination suppression by heterozygous chromosomal rearrangement may accumulate recessive deleterious mutations and thus cause a great amount of mutation load. Deleterious mutations will be eliminated when homozygotes and in turn increase heterozygosity of

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Dutta, Usha Rani [Verfasser]. "Molecular characterization of a pericentric inversion of chromosome 3 in a 3-generation family with short stature / von Dutta Usha Rani." 2008. http://d-nb.info/994457936/34.

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Lowry, David Bryant. "Integrating genetics, geography, and local adaptation to understand ecotype formation in the yellow monkeyflower, Mimulus guttatus." Diss., 2010. http://hdl.handle.net/10161/2383.

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<p>Speciation is a constantly ongoing process whereby reproductive isolating baririer build up over time until groups of organisms can no longer exchange genes with each other. Adaptation is thought to play a major role in the formation of these barriers, although the genetic mechanisms and geographic mode underlying the spread of barriers due to adaptive evolution is poorly understood. Critically, speciation may occur in stages through the formation of intermediate partially reproductively isolated groups. The idea of such widespread ecotypes has been the subject of great controversy over

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