Dissertations / Theses on the topic 'Sex differentiation'
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Martinez, Bengochea Anabel Lee. "Insights of sex determination and sex differentiation in fish /." Jaboticabal, 2019. http://hdl.handle.net/11449/190916.
Full textResumo: A decisão sobre se uma gônada bipotencial se desenvolverá em um testículo ou em um ovário é considerado um estágio crítico na diferenciação sexual dos vertebrados. A administração de esteróides exógenos durante este período pode afetar essa plasticidade, promovendo a diferenciação sexual na direção feminina ou masculina. Dessa forma, o objetivo desta tese foi avaliar os efeitos do tratamento de 17β-estradiol no desenvolvimento de Astyanax altiparanae (lambari), através de análises histológicas e de análises de expressão genica de possíveis genes envolvidos em vias masculinas e femininas. Para isso, larvas com gônadas indiferenciadas foram alimentadas com Artemia contendo diferentes concentrações de estradiol durante 28 dias, desde o 1 dia pós-eclosão (dpe) até o período que precede a diferenciação gonadal. Nossos resultados mostraram que o E2 modificou o fenotípo e a relação sexual histológica e, surpreendentemente, induziu intersexo com com a presença de óvulos nos testículos nas concentrações de 2 e 6 mg de E2/kg de alimento. Esses dados são uma evidência clara de que o tratamento utilizado não foi suficiente para induzir a reversão completa do sexo em A. altiparanae. Em termos de expressão gênica, o tratamento com E2 (6 mg/kg de alimento) produziu uma notável plasticidade gonadal entre machos e fêmeas aos 90 dias após a eclosão (dph). Os machos, denominados “machos resistentes ao estradiol”, superexpressaram os genes masculinos, como dmrt1, sox9 e amh. Dessa forma, nó... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The decision whether a bipotential gonad will become a testis or ovary is considered a critical stage in vertebrate sex determination. Administration of exogenous steroids can affect this plasticity by skewing the sex gonadal differentiation towards a male or female. The aim of this study is to evaluate the effects of 17β-estradiol (E2) diet on Astyanax altiparanae (lambari) development, focusing on the gonadal development and gene expression analysis of possible candidate genes involved in either male or female pathways. Larvae with undifferentiated gonads were fed with steroid diet containing different concentrations of E2 during 28 days, from the mouth opening until a period that precedes the gonadal differentiation. Animals were sampled at 90 days post-hatching (dhp) for histology and gene expression analysis. Our results showed that E2 disrupted both phenotypic and histological sex ratios, and surprisingly, induced intersex with testis-ova in the concentrations of 2 and 6 mg E2/Kg food. This data is a clear evidence that the treatment used was not enough to induce complete sex reversal in A. altiparanae. However, in terms of gene expression, E2 (6mg/Kg food) induced a remarkable gonadal plasticity between males and females at 90 dph. The males, named as E2 resistant males, overexpressed the male-biased genes, such as dmrt1, sox9 and amh. We suggested that these males were able to resist the E2-induced feminization by the expression of genes related to testis differentiat... (Complete abstract click electronic access below)
Doutor
Chipungu, Patrick M. K. "Tilapia genetics : survival, growth and sex differentiation." Thesis, University of Stirling, 1987. http://hdl.handle.net/1893/17765.
Full textClement, Tracy M. "Molecular mechanisms of sex determination and testis differentiation." Pullman, Wash. : Washington State University, 2009. http://www.dissertations.wsu.edu/Dissertations/Spring2009/t_clement_050709.pdf.
Full textTavallaee, Ghazaleh. "Molecular mechanism of SRY action during testicular differentiation in the mouse." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=112313.
Full textPrunskaite-Hyyryläinen, R. (Renata). "Role of Wnt4 signaling in mammalian sex determination, ovariogenesis and female sex duct differentiation." Doctoral thesis, Oulun yliopisto, 2014. http://urn.fi/urn:isbn:9789526204727.
Full textTiivistelmä Nisäkkäiden naaraspuolista kehitystä pidettiin aiemmin sukupuolisen erilaistumiskehityksen oletusarvona. Signaloivien proteiinien Wnt-perheeseen kuuluvan Wnt4-geenin puutteen todettiin kuitenkin johtavan XX naarasalkion sukupuolen kääntymisen koiraaksi sekä aiheuttavan tiettyjä koiraille ominaisia piirteitä. Tämä osoitti, ettei naaraspuolinen kehitys ole oletusarvo, vaan se riippuu aktiivisesta signaloinnista ja solujen välisestä interaktiosta. Tämän väitöstutkimuksen tarkoitus oli selvittää Wnt4-geenin roolia sukupuolen määräytymisessä, munasarjojen kehittymisessä sekä naaraan sukupuolitiehyitten muodostumisessa. Tutkimuksessa osoitettiin, että munasarjat tuottavat testosteronia niillä naaraspuolisilla alkioilla, joilta puuttuu Wnt4-geeni. 80 prosentilla naaraista, joilla on Wnt4-geenin puute, androgeenivaikutuksen esto raskauden aikana annettavalla antiandrogeenilla, flutamidilla, estää sukupuolen vaihtumisen fenotyypin. Tämä viittaa siihen, että testosteroni toimii mahdollisena koiraan fenotyypin välittäjänä naarailla, joilta puuttuu Wnt4-geeni. Wnt4 ilmentyy munasarjojen somaattisissa soluissa, jotka ovat tärkeitä naaraspuolisen ituradan kehityksen säätelyn kannalta. Väitöstutkimus osoittaa, että Wnt4 on itusoluryppäitä, solujen välistä interaktiota sekä varhaista follikkeligeeni-ilmentymistä ylläpitävä tekijä. Tulokset osoittavat myös, että Wnt4/5a -signaloinnilla on tärkeä rooli meioosissa. Tutkimus osoittaa lisäksi, että Wnt4 vaikuttaa munasarjojen kehitykseen myös syntymän jälkeen. Puutteellinen signalointi alentaa Anti-Müllerian hormonin tasoa, heikentää tyvikalvoa ja vähentää solujen polarisaatiota, joka johtaa ennenaikaiseen munasarjojen toiminnan hiipumiseen. Müllerin tiehyet, joista myöhemmin kehittyvät munanjohtimet, kohtu ja vaginan yläosa, jäävät kokonaan muodostumatta naarailla, joilta puuttuu Wnt4-geeni. Tulokset viittaavat siihen, että Wnt4 on tarpeen alkioaikaiseen Müllerin tiehyen muodostavien solujen liikkeellelähtöön ja ylläpitoon. Wnt4:llä on myös keskeinen rooli kohturauhasten muodostumisessa sukukypsyyden saavuttamisen aikana ja sen jälkeen
Doszyn, Olga. "Sex differences in neuronal differentiation of human stem cells." Thesis, Uppsala universitet, Institutionen för biologisk grundutbildning, 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-384661.
Full textRahm, Olivia. "Variations in Sex Differentiation : The Neurobiology of Gender Dysphoria." Thesis, Högskolan i Skövde, Institutionen för biovetenskap, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-17657.
Full textGamba, Thiago de Oliveira 1977. "Avaliação do dimorfismo sexual por meio de estudo antropométrico em imagens por tomografia computadorizada de feixe cônicos." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/288978.
Full textDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba
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Resumo: O objetivo no presente estudo foi verificar se medidas antropológicas realizadas em mandíbulas, por meio de imagem de Tomografia Computadorizada de feixe cônico (TCFC), podem detectar o dimorfismo sexual em uma população brasileira. Adicionalmente, criar uma fórmula, a partir destas medidas para determinação do sexo. Para isso, foi selecionada uma amostra de 159 imagens de TCFC de indivíduos de uma população brasileira (74 homens e 85 mulheres), com idade variando de 18 a 60 anos. As imagens foram analisadas por 5 avaliadores, que realizaram seis mensurações: comprimento do ramo mandibular em altura (CR), comprimento da base mandibular (CBM), menor comprimento do ramo mandibular em largura (MCR), ângulo goníaco (AG), distância intercondilar (DIC) e distância intergoníaca (DIG), em reconstruções 3D de TCFC. Após quinze dias, as mensurações foram repetidas com 25 % da amostra. Para análise estatística, foi aplicada a Correlação Intraclasse na avaliação intra e interexaminador, Análise de Variância (ANOVA) para comparação entre os valores médios das mensurações presentes e equações binárias de Regressão Logística foram criadas para determinação do sexo. As mensurações evidenciaram valores do sexo masculino superiores aos do feminino, exceto na variável MCR que não apresentou diferença estatisticamente significante entre os sexos. As medidas com maiores índices dimórficos foram: DIG, CR, DIC, e AG. Associando estas quatro medidas obteve-se uma precisão de 95,1% na determinação do sexo, assim, foi possível concluir que a fórmula desenvolvida no presente estudo pode ser utilizada para identificação do sexo na prática forense
Abstract: The aim of this study was to determine whether anthropological measurements taken in jaws through image cone beam CT (CBCT) could aid in detecting sexual dimorphism in a Brazilian population. Additionally, this study was aimed at creating a formula from these measurements for sex determination. Subjects (n=159) involved a Brazilian population (74 men and 85 women), aged 18-60 years. The CBCT images were analyzed by 5 reviewers, who performed six measurements in the analysis of sexual dimorphism: Ramus length (R-L); Gonion-gnathion length (G-G-L); Minimum ramus breadth (M-R-Br); Gonial angle (G-A); Bicondylar breadth (Bic-Br); and Bigonial breadth (Big-Br), reconstructions in 3D CBCT. The measurements were repeated with 25% of the sample 15 days after the first evaluation for statistical analysis, the intraclass correlation was used to evaluate intra- and inter-examiners, the Analysis of Variance (ANOVA) to compare the mean values and the binary logistic regression equations were created to determine the sex. The measurements showed higher values for males, except for M-R-Br, showing no statistically significant difference between genders. The measurements with the highest rates were dimorphic: Big-Br, R-L, Bic-Br and GA. When the four variables were associated, an accuracy of 95.1% in sex determination was observed. In conclusion, the formula developed in this study can be used for sexual differentiation in forensic settings
Mestrado
Radiologia Odontologica
Mestre em Radiologia Odontológica
Poonlaphdecha, Srisupaph. "Recherche et caractérisation de gènes exprimés dans les gonades et le cerveau d'Oreochromis niloticus, utilisables comme marqueurs liés au sexe pour la production de populations monosexes mâles par des approches respectueuses de l'environnement." Thesis, Montpellier 2, 2010. http://www.theses.fr/2010MON20223.
Full textKnowledge and the control of sex determination and differentiation are major challenges for tilapia production. Farming of male monosex populations avoids the negative effects of a continuous reproduction and benefits from males' fast growth. In the context of a sustainable aquaculture, alternative and ecological strategies have to be developed to control sex in tilapia without hormonal treatment. These approaches will rely on genetic and environmental treatments, such as the use of masculinising high temperatures applied during sex differentiation. The search for genes implicated in sex differentiation has been performed in both gonads and brains using the analysis of candidate genes. The objective was to develop putative markers to produce male monosex populations through consumer and environmentally friendly approaches. Temporal and organ expressions of cyp19a1a, cyp19a1b, foxl2, dmrt1, sox9, dax1 and amh were analysed in several progenies o f genetic males or females as well as in temperature-treated individuals. Their link with temperature masculinisation was also performed on the thermosensitive tilapia lines. One of the sexual dimorphic genes was amh which was found expressed in both gonads and brains during early stages of sex-differentiation. Brain amh was elevated in males when the gonads were still undifferentiated and probably before steroid synthesis took place. A precocious molecular sexing procedure was developed in tilapia using this gene. This procedure will be of great advantage for both farmers and scientists in identifying quickly male individuals and in finding reliable male monosex approaches not using hormones
Nasseri, Roksana. "Transcriptional activity of sex chromosomes in the oocytes of the B6.Ytir sex-reversed female mouse." Thesis, McGill University, 1998. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=21613.
Full textThe present study examined the transcriptional activity of the X and Y chromosomes in these oocytes. RT-PCR results show that the Ube1y gene is transcribed in the XY ovary at all stages examined and also in growing XY oocytes. The Sry gene was transcribed only at the onset of ovarian differentiation whereas the Zfy gene was undetectable at all stages during fetal life. The Xist gene, which is involved in X inactivation, was not expressed in XY oocytes. We speculate that expression of Y-encoded genes may have a deleterious effect on the quality of the oocytes and thus renders them incompetent for post-fertilization development.
Piske, David A. "An integral-holist account of human sexual differentiation and gender identity." Theological Research Exchange Network (TREN) Access this title online, 2005. http://www.tren.com.
Full textJones, Rosalyn. "An ethnographic study of gender differentiation in a middle school." Thesis, University of Leeds, 1988. http://etheses.whiterose.ac.uk/496/.
Full textHamaguchi, Satoshi. "Sex differentiation of germ cells and their supporting cells in Oryzias latipes." Laboratory of Freshwater Fish Stocks, Nagoya University, 1992. http://hdl.handle.net/2237/13766.
Full textFortune, Lois Gretchen Hyder. "Sex-exclusive differentiation in the Karaja language of Bananal Island, central Brazil." Thesis, Lancaster University, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.246127.
Full textLee, Chung-Hae 1966. "Mechanism of sex determination and reversal in an XY mouse strain." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=38073.
Full textLalous, Maria. "The mechanisms of sex reversal in the B6.Ytir mouse /." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=79021.
Full textThe B6.YTIR sex-reversed mouse provides a good model for studying sex-determining mechanisms. We proposed a hypothesis that the testis-determining pathway is impaired downstream of Sry transcription in the B6.YTIR fetus.
The current study aimed to determine the hierarchical order of Sry, Sox9, Pn1, and Mis by examining their expression in B6.YTIR gonads as compared to normal B6.XY gonads by RT-PCR.
Results. Sry expression was comparable between B6.Y TIR and B6.XY gonads, with its onset between 10.5 and 11.5 dpc, a peak at 11.5 dpc, and downregulation thereafter. Sox9 expression was detectable in both B6.XX and B6.XY gonads at 11.5 dpc at comparable levels, but was then downregulated in B6.XX gonads at 12.5 dpc, by which stage testicular cord formation had began in B6.XY gonads. Pn1 was expressed in both B6.XX and B6.XY gonads at comparable levels at 11.5 dpc and was upregulated in B6.XY gonads at 12.5dpc. Mis expression in B6.Y TIR gonads was low at 10.5 and 11.5 dpc with a peak at 12.5dpc and higher levels only in ovotestes at 14.5dpc.
These results indicate that all Sox9, Pn1, and MIS genes follow a sexually dimorphic pattern of expression associated with development of testicular cords. Therefore, these genes are placed downstream of Sry in the fetal mouse gonad. Furthermore, we conclude that the testis-determining pathway is impaired upstream of Sox9 and Pn1 and Mis in the B6.YTIR gonad. (Abstract shortened by UMI.)
Kwon, Joon Yeong. "Cytochrome P450 aromatase (CYP19) and sex differentiation in the Nile tilapia Oreochromis niloticus." Thesis, University of Stirling, 2000. http://hdl.handle.net/1893/3410.
Full textRodriguez, Montes de Oca Gustavo Alejandro. "Evaluation of dietary phytochemicals on sex differentiation and growth in Nile tilapia (Oreochromis niloticus)." Columbus, Ohio : Ohio State University, 2005. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1133358425.
Full textMattsson, Anna. "Roles of ERα and ERβ in Normal and Disrupted Sex Differentiation in Japanese Quail." Doctoral thesis, Uppsala universitet, Ekotoxikologi, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8921.
Full text劉敏 and Min Liu. "Sexual differentiation and sex change in the chocolate hind, cephalopholis boenak (Pisces: serranidae: epinephelinae)." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B30138073.
Full textKim, Julie M. "Androgen-induced norepinephrine release in male accessory sex organ smooth muscle growth and differentiation." Morgantown, WV : [West Virginia University Libraries], 1999. http://etd.wvu.edu/templates/showETD.cfm?recnum=417.
Full textTitle from document title page. Document formatted into pages; contains vi, 125 p. : ill. Vita. Includes abstract. Includes bibliographical references (p. 107-122).
Webb, Gary Ray. "An Examination of Gender Role Differentiation in Crowd and Collective Behavior." Thesis, University of North Texas, 1994. https://digital.library.unt.edu/ark:/67531/metadc278003/.
Full textDe, Bono Mario Godwin. "Studies on the regulation and evolution of tra-1, the terminal somatic sex determining gene in Caenorhabditis elegans." Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321108.
Full textHanschen, Erik Richard, and Erik Richard Hanschen. "The Evolution of Cell Cycle Regulation, Cellular Differentiation, and Sexual Traits during the Evolution of Multicellularity." Diss., The University of Arizona, 2017. http://hdl.handle.net/10150/626165.
Full textPoonlaphdecha, S., E. Pepey, S. H. Huang, M. Canonne, Lucile Soler, S. Mortaji, Serge Morand, et al. "Elevated amh Gene Expression in the Brain of Male Tilapia (Oreochromis niloticus) during Testis Differentiation." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-137335.
Full textDieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich
Konovalova, Nadežda. "Aromatazės slopinimo embriogenezėje poveikis suaugusių naminių vištų patelių elgsenos struktūrai." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2009. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2006~D_20090908_193917-74425.
Full textIn recent years much scientific reseach is devoted to the endocrine control of behaviour. In our work we studied the possible role of estrogens in differentiation of sexual behaviour in female chickens. Eksperimental animals were treated on day 8 of embrionic development with an aromataze inhibitor, fadrozole, thus blocking the oestradiol production. Control animals received injections of vehicle (saline). In adulthood behaviour of hens was observed in two different sexual behaviour tests: with mature non-treated (intact) cocks and with non-treated (control) hens. When tested with a cock, fadrozole-treated hens showed reduced readiness to copulate with a cock, tended to dominate and to avoid a cock. When tested with a control hen, experimental birds displayed male-type behaviour – waltzing, mount attempts and crowing,. Some of fadrozole-treated hens showed a full sequence of copulatory behaviour, including cloacal contact movement. Our study supports the hypothesis that oestrogens play a major role in differentiation of sexual behaviour in the domestic chickens.
Kazemi-Esfarjani, Parsa. "Functional analysis of the human androgen receptor using synthetic and naturally occurring mutations." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=42065.
Full textIn contrast to the findings by others (McPhaul et al., 1992; Marcelli et al., 1994), in some instances involving identical mutations, I consistently observed a correlation between the biochemical phenotype of the mutant hARs and the clinical phenotype of AI individuals; that is, the more severe receptor phenotype was associated with the more severe AI. These results support the hypothesis that hAR phenotype is the dominant factor in the development of the secondary sexual characteristics in normal and affected individuals.
I also observed a tight negative correlation between polyglutamine tract length and transactivational capacity. This suggests that polyglutamine modulates the activity of the hAR, and that hAR activity might be suppressed in various androgen-sensitive tissues (including motor neurons) in SBMA individuals, thereby contributing to the age of onset and/or progression of the disease, even if it cannot be the primary pathogenic agent of the disease.
Mhatre, Anand N. "Biochemical and molecular genetic analysis of mutant androgen receptors in humans." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=39499.
Full textExpansion of the glutamine (gln) tract within the N-terminus of the AR causes spinal bulbar muscular atrophy (SBMA), a disease of motor neurons, but the mechanism of this neuropathology is unknown. To determine the effect of gln-tract expansion upon AR function, SBMA-associated mutant AR was transiently expressed and characterized in COS-1 cells. The androgen-binding parameters of the mutant receptor were normal, but it had decreased transactivation competence (50-66% of normal; n = 3). This abnormal transregulatory function may account for the expression of traits associated with minimal androgen insensitivity (MAI) that are variably expressed in the SBMA patients.
Shkolny, Dana. "Characterization of four point mutations in the androgen receptor gene of subjects with varying degrees of androgen insensitivity syndrome." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=23299.
Full textPrior, Lynn. "Molecular genetic analysis of receptor-defective androgen resistance in man." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=55646.
Full textSabbaghian, Nelly. "Structure-function analysis of three widely dispersed point mutations in the hormone-binding domain of the androgen receptor." Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=68254.
Full textBordet, Sylvie. "Analysis of two point mutations in the androgen receptor gene of patients with complete androgen resistance." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56917.
Full textChivers, Clare. "Disorders of sex development : developmental challenges and mothers' experiences of support." Thesis, Canterbury Christ Church University, 2014. http://create.canterbury.ac.uk/12845/.
Full textPoonlaphdecha, S., E. Pepey, S. H. Huang, M. Canonne, Lucile Soler, S. Mortaji, Serge Morand, et al. "Elevated amh Gene Expression in the Brain of Male Tilapia (Oreochromis niloticus) during Testis Differentiation." Karger, 2011. https://tud.qucosa.de/id/qucosa%3A27728.
Full textDieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
Razey, Melissa Anne, University of Western Sydney, of Arts Education and Social Sciences College, and School of Social Ecology and Lifelong Learning. "Gender differentiation in early literacy development : a sociolinguistic and contextual analysis of home and school interactions." THESIS_CAESS_SELL_Razey_M.xml, 2002. http://handle.uws.edu.au:8081/1959.7/219.
Full textDoctor of Philosophy (PhD)
Calais, Flávia Leme 1983. "Efeitos de variações intrônicas em genes de enzimas esteroidogênicas sobre o processo de splicing." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/317137.
Full textTese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia
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Resumo: O estudo da relação entre erros no processo de splicing e a ocorrência de doenças se tornou uma questão importante no campo da pesquisa médica. As alterações que afetam o mecanismo de splicing podem ser a causa direta de doença, podem também modificar a gravidade fenotípica, assim como podem estar ligadas a uma maior susceptibilidade de desenvolver doenças. As mutações de splicing, que em muitos casos originam transcritos não funcionais, têm sido identificadas na grande maioria dos genes envolvidos nos distúrbios da diferenciação do sexo em humanos. A presença de alterações ou mutações em alguns destes genes, pode comprometer a biossíntese correta de proteínas essenciais para o desenvolvimento adequado das gônadas ou dos genitais externos. Através da técnica de minigene, foram estudadas mutações presentes em regiões intrônicas, em três genes essenciais para a correta diferenciação sexual humana: SRD5A2, HSD17B3 e CYP21A2 . O objetivo era verificar se alteravam o mecanismo de splicing normal ou criariam sítios alternativos de splicing. Para o gene SRD5A2, foram estudadas duas alterações: c.548-44T>G, próxima à região aceptora de splicing do intron 3; e, a alteração c.278delG, dentro da região doadora de splicing do intron 1. Os minigenes mutante e controle produziram transcritos com splicing normal, splicing alternativo produzindo um transcrito com 112 nucleotídeos deletados e um transcrito com o skipping do exon 4, porém em quantidades diferentes, o que sugere que esta alteração pode causar um desbalanceamento entre os transcritos normalmente produzidos. A mutação c.278delG, por sua vez, fez com que o spliceossomo reconhecesse um sítio 5¿ de splicing alternativo dentro do exon 1 do gene SRD5A2, produzindo um transcrito com a deleção de 38 nucleotídeos. Este transcrito apresenta um códon de parada de síntese proteica prematuro na posição 121. No gene HSD17B3 foi estudada a alteração c.277+2T>G, que se localiza na região doadora de splicing no intron 3. Neste caso o único transcrito observado como resultado do minigene mutante apresentava o skipping do exon 3 do gene HSD17B3. No gene CYP21A2 foram analisadas duas alterações: a primeira alteração é a c.939+5G>A, localizada na região doadora de splicing do intron 7, e a segunda é a c.289+127T>G, no intron 2. De forma semelhante à observada para a alteração c.548-44T>G do gene SRD5A2, tanto os minigenes controles quanto os mutantes produziram os mesmos transcritos, mas em proporções quantitativamente diferentes. Estes resultados indicam que o sistema de minigene foi adequado para o estudo, embora os resultados tenham sido mais conclusivos para as alterações localizadas nas sequências consenso de splicing, isto é para as c.278delG no gene SRD5A2 e c.277+2T>G no gene HSD17B3. Os resultados das demais alterações sugerem que a transcrição dos genes em questão produzam normalmente diferentes transcritos, mas mediante as trocas nucleotídicas, as proporções entres eles se alteram, podendo assim, afetar a função gênica correta em alguma fase crucial do desenvolvimento. Estes achados colaboraram para o esclarecimento e compreensão do fenótipo dos pacientes portadores das mutações aqui descritas, além de propiciar um melhor entendimento dos efeitos biológicos na transcrição de genes quando na presença das mutações intrônicas. Portanto, o estudo de alterações em sítios de splicing através da análise de minigenes torna-se fundamental tanto para o esclarecimento do diagnóstico clínico, como também para uma melhor comprenssão dos efeitos das mutações sobre os mecanismos moleculares de splicing
Abstract: The relation between RNA splicing and occurrence of disease in humans has been an important issue in the field of medical research. Nucleotide changes that affect the splicing mechanism can be the direct cause of disease or modulate the phenotypic severity, and also they can be linked to an increase of disease susceptibility. Splicing mutations have been identified in the vast majority of genes responsible for disorders of sex development in humans. The presence of sequence variations in some of these genes may compromise the correct biosynthesis of proteins involved in the normal development of gonads and external genitalia. Using minigene technique, mutations identified in intronic regions of three essential genes for human sexual differentiation have been studied: SRD5A2, HSD17B3 and CYP21A2. The purpose was to verify whether such mutations would abolish the normal mechanism of splicing or would create alternative splice sites. For SRD5A2 gene, two nucleotide changes have been evaluated: c.548-44T>G, located near the acceptor splice site of intron 3; and c.278delG change within intron 1 donor splice site consensus sequence. Both control and mutant minigenes produced transcripts corresponding to a normal splicing and an alternative splicing showing a transcript with the deletion of 112 nucleotides and a transcript with the exon 4 skipping. However, they differed in the amount of each transcript, suggesting that this nucleotide substitution may result in an imbalance of transcripts normally produced. The c.278delG mutation, in turn, favored the spliceosome to recognize a 5' site for an alternative splicing within exon 1 of the SRD5A2 gene yielding a transcript with the deletion of 38 nucleotides. This transcript has a premature stop codon at position 121. The c.277+2T>G nucleotide change in HSD17B3 gene is located at the splicing donor site of intron 3. In this case the only transcript seen as a result of mutant minigene showed the skipping of exon 3 of the HSD17B3 gene. For the CYP21A2 gene, two nucleotide changes were analyzed: the first is the c.939+5 G>A, located in the donor splice site of intron 7, and the second is the c.289+127T>G, which is located in intron 2. Similarly to the observed for c.548-44T>G in SRD5A2 gene, both control and mutant CYP21A2 minigenes showed transcripts that differed only in the amount produced in each construction. The results described here indicate that the chosen minigene system was adequate for the study, although the results have been more conclusive for changes localized in the consensus splicing sequences, i.e. for c.278delG in SRD5A2 gene and c.277+2T>G in HSD17B3 gene. Results for the other changes suggest that gene transcription usually involve the production of different transcripts. Upon changes in the nucleotide sequence the ratio between each transcript may alter affecting the gene function in critical stages of the development. These findings contributed to understand the phenotype of patients bearing the mutations described here, in addition provided a better understanding of the biological effects on gene transcription caused by intronic mutations. Therefore, the study of nucleotide changes in splicing sites by analyzing minigenes is fundamental both to clarify the clinical diagnosis and also for a better comprehension of the effects of mutations on the molecular mechanisms of splicing, extending our understanding of the endocrine regulation in sexual differentiation
Doutorado
Genetica Animal e Evolução
Doutora em Genética e Biologia Molecular
Lazin, Jamie Jonas. "The effect of age and sex on the number and osteogenic differentiation potential of adipose-derived mesenchymal stem cells." Thesis, Georgia Institute of Technology, 2010. http://hdl.handle.net/1853/34696.
Full textSäfholm, Moa. "Developmental and Reproductive Toxicity of Progestagens in the Xenopus (Silurana) tropicalis Test System." Doctoral thesis, Uppsala universitet, Miljötoxikologi, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-210990.
Full textVasiliou, Denise Marie. "Analysis of exon 1 and the 5'-flanking region of the androgen receptor gene in subjects with androgen insensitivity syndrome." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=27431.
Full textCrossard, Elodie. "Ontogenèse des neurones à kisspeptine chez le rat : neurogénèse et cartographie spatio-temporelle de kisspeptine de l'embryogénèse à l'âge adulte." Thesis, Tours, 2011. http://www.theses.fr/2011TOUR4026/document.
Full textKisspeptin (kp) is a neuropeptide, derived from the kiss-1 gene, which plays a key role in the central control of reproduction by regulating GnRH secretion in adult but also during development. Cells which express kiss-1 are localized in two distincts hypothalamic regions: the rostral peri-ventricular third ventricule area (RP3V) and the arcuate nucleus (ARC). Kiss-1 expression is highly regulated by sex steroids: positively in the RP3V and negatively in the ARC. RP3V kp neurons have been implicated in the pre-ovulatory GnRH surge whereas ARC kp neurons may predominantly act on GnRH secretion pulsatility. The aim of this PhD work was to determine the neurogenesis period of kp neurons and changes of kiss-1 and kp expression in both regions during different stages of development in rats. Our results highlight key periods of kp neurons ontogenesis and show that: 1) ARC kp neurons are born during an extended embryonic neurogenesis period starting at embryonic day (E) 12,5; 2) a sex independent down-regulation of kp occurs during peri-natal period; 3) sex difference in the expression level and neuroanatomique distribution of kp establishes during neo-natal period; 4) kp was regulated during peri-pubertal period in sex and region dependant manner; 5) kp-ir fibers are detected throughout the septo-hypothalamic continuum suggesting that kp could be implicated in other functions than reproductive function
Hishida, T., and H. Kobayashi. "MORPHOLOGICAL OBSERVATION ON REVERSAL PROCESSES OF SEX-DIFFERENTIATION IN THE GENETIC FEMALE GONAD OF THE MEDAKA, ORYZIAS LATIPES, BY ANDROGEN." Laboratory of Freshwater Fish Stocks, Nagoya University, 1985. http://hdl.handle.net/2237/13765.
Full textSone, Takefumi. "Molecular cytological analyses toward the clarification of the sex determination and differentiation mechanisms in a dioecious liverwort, Marchantia polymorpha L." Kyoto University, 1999. http://hdl.handle.net/2433/157131.
Full textKyoto University (京都大学)
0048
新制・課程博士
博士(農学)
甲第7907号
農博第1065号
新制||農||781(附属図書館)
学位論文||H11||N3270(農学部図書室)
UT51-99-G501
京都大学大学院農学研究科農芸化学専攻
(主査)教授 大山 莞爾, 教授 佐藤 文彦, 教授 關谷 次郎
学位規則第4条第1項該当
Zuloaga, Damian. "The role of the androgen receptor in anxiety-related behaviors, the hypothalamic pituitary adrenal axis, and sensorimotor gating studies in rodents with the testicular feminization mutation /." Diss., Connect to online resource - MSU authorized users, 2008.
Find full textGyllenhammar, Irina. "Endocrine Disruption in Amphibians : Developmental Effects of Ethynylestradiol and Clotrimazole on the Reproductive System." Doctoral thesis, Uppsala universitet, Ekotoxikologi, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9209.
Full textAndrade, Juliana Gabriel Ribeiro de 1980. "Estudo retrospectivo sobre crescimento, puberdade espontanea e anomalias associadas em pacientes com disgenesia gonadal parcial 46, XY." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308144.
Full textDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: Introdução: A disgenesia gonadal (DG) parcial XY, caracterizada por disgenesia testicular e genitais internos e externos ambíguos em indivíduos com cariótipo 46,XY, é uma causa rara de distúrbio da diferenciação do sexo, de prognóstico ainda não completamente elucidado e etiologia ainda desconhecida. No entanto, o conhecimento a respeito de sua evolução clínica, da ocorrência de puberdade espontânea e de anomalias associadas é fundamental para definição do sexo de criação e orientação das famílias. Além disso, como genes responsáveis pela diferenciação testicular agem como promotores do crescimento, é possível haver associação dessa afecção com distúrbios do crescimento pré e pós-natal. Objetivo: Avaliar características clínicas associadas a esse distúrbio da diferenciação gonadal: antecedentes gestacionais e familiares, crescimento, puberdade espontânea e anomalias associadas. Sujeitos e Métodos: Análise retrospectiva dos dados contidos nos prontuários de 11 pacientes com DG Parcial XY criados no sexo masculino e com ao menos um dos testículos situado na bolsa escrotal. Estes pacientes haviam sido objeto de extensa avaliação clínica, histopatológica e molecular entre 1996 e 1998. Resultados: A maioria dos pacientes atingiu altura final dentro do canal de crescimento, e todos tiveram puberdade espontânea, apesar de níveis elevados de LH em alguns casos; apenas um necessitou de reposição de andrógenos para completar o desenvolvimento puberal. Havia níveis elevados de FSH e grave oligospermia; deficiência mental foi observada em três casos e hipotireoidismo em dois. Discussão: Portadores de DG parcial XY criados no sexo masculino e que tenham ao menos um testículo tópico têm bom prognóstico quanto à puberdade espontânea, embora haja possibilidade de falência secundária das células de Leydig; já o prognóstico quanto á função reprodutora é reservado. Não há indicações de que haja distúrbios do crescimento pré e pós-natal associados à disgenesia testicular. Apesar do pequeno número amostral, a maior freqüência de déficit cognitivo e hipotireoidismo observada nesta amostra indica que é necessário haver especial atenção a estas possíveis anomalias associadas
Abstract: Introduction: XY partial gonadal dysgenesis (GD), characterized by ambiguous internal and external genitália in 46,XY subjects, is a rare cause of disorder of sex development. Both prognosis and etiology are still unknown. However, knowledge regarding natural history, spontaneous puberty and associated anomalies is essential to define sex of rearing and to discuss the prognosis with the parents. In addition, as genes responsible for testicular differentiation act as growth promoters, there may be an association of this disorder with pre and postnatal growth deficiency. Aim: To evaluate the clinical features associated with this disorder of gonadal differentiation: gestational and family history, growth, spontaneous puberty and associated anomalies. Subjects and Methods: Retrospective analysis of data from the clinical files of 11 patients with XY partial GD reared as males and who had at least one testis located in the scrotum. These patients had been subject to careful clinical, histopathological and molecular evaluation between 1996 and 1998. Results: Most patients attained final height within the limits of their growth channel, and all had spontaneous pubertal development, though some had high levels of LH. Only one needed androgen replacement to complete puberty. There were high levels of FSH and severe oligospermia. Mental deficiency was observed in three cases and hypothyroidism in two. Discussion: Patients with XY partial GD with at least one topic testis have good prognosis regarding spontaneous puberty, though there is a possibility of secondary Leydig cells' failure; there is no good prognosis regarding reproductive function. There are no indications on pre or postnatal growth deficiency associated with testicular dysgenesis. Despite the small sample size, the higher frequency of cognitive deficit and hypothyroidism indicates that there must be special attention to these associated disorders
Mestrado
Saude da Criança e do Adolescente
Mestre em Saude da Criança e do Adolescente
Razey, M. A. "Gender differentiation in early literacy development : a sociolinguistic and contextual analysis of home and school interactions /." View thesis View thesis, 2002. http://library.uws.edu.au/adt-NUWS/public/adt-NUWS20030402.113451/index.html.
Full textA thesis submitted to the University of Western Sydney in fulfilment of the requirements for the degree of Doctor of Philosophy. Bibliography: leaves 139-170.
Töhönen, Virpi. "Novel genes in gonadal development /." Stockholm : [Karolinska institutets bibl.], 2002. http://diss.kib.ki.se/2002/91-7349-115-2/.
Full textMatheus, Friederike [Verfasser], and Magdalena [Akademischer Betreuer] Götz. "The role of Additional sex combs-like genes in human pluripotent stem cell differentiation and congenital disorders / Friederike Matheus ; Betreuer: Magdalena Götz." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2018. http://d-nb.info/116814583X/34.
Full textMartins, Rute Sofia Tavares. "Does the interrenal influence sex differentiation in sea bass, Dicentrarchus labrax?" Master's thesis, 2003. http://hdl.handle.net/10400.1/11048.
Full textTsai, Ya-Ju, and 蔡雅如. "The gonadal sex differentiation and sex change of orange-spotted grouper, Epinephelus coioides." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/45710309833859394096.
Full text國立臺灣海洋大學
水產養殖學系
100
The sex of Orange-Spotted grouper gonad (Epinephelus coioides) firstly differentiated into female, each lobe of the paired gonads began to form an ovarian cavity at 4 mo of age. The formation of the ovarian cavity is an early characteristic of female differentiation for orange-spotted grouper. The newly budded ovarian lamella around the inside of the ovarian cavity in the gonad mainly contained oogonia and a few primary oocytes in the fish at 6.5-7 mo of age. Cortical alveoli (CA) appeared untill 1yr7mo age,and vitellogenic oocytes were present within the mature ovarian lamellae.Treament with aromatase inhibiter (AI) or methyltestosterone (MT) by feed and implantation in sex differentiation period (3-5mo)、1-2yr and 4yr adult fish inducesd sex change. To investigate gene expression of cyp19a1a、dmrt1 and sex-differentiation related genes ex. sf1、dax1、foxL2、11β, and localization of P450arom、Dmrt1、Pcna、Vasa during sex differentiation and sex change by immunohistochemistry (IHC). The protogynous orange-spotted grouper E. coioides is a diandric type of hermaphrodite. Most secondary males occur through a sex change in adult female fish and few primary males develop directly from juveniles. primary males and secondary males have varying degree sex change testis tissue:a single spermatogenic cyst (SSC)、various stages of spermatogenic cyst (VSCs) and mature stage of cysts (AMC). Primary males (sex change naturally) with single spermatogenic cyst and various stages of spermatogenic cyst firstly occur in 1.5 yr. The expressions of cyp19a1a is single-mindedly in 7 mo orange-spotted grouper gonad. The gene expression of cyp19a1a expressed increasingly from sex differentiation to female adult fish. There are two gene expression peaks of cyp19a1a in 1 and 3+7 -age. From IHC results, P450arom appeared in follicular layers of oogonia, cortical alveolar oocytes, and vitellogenic oocytes but not in primary oocytes. It was interesting to observe that testicular tissues in the sex-changing male grouper (such as cysts,spermatids, and spermatogonia) showed positive aromatase staining. The expressions of dmrt1 is only in 7 mo orange-spotted grouper gonad. The gene expression is gradually expressed increasingly during sex differentiation and highly expressed in testis after sex change (From IHC results, Dmrt1 express strongly in cytoplasm of SG);From IHC and in situ results, Dmrt1 (dmrt1) expresses in cytoplasm of germ cells during sex differentiation or early female gonad development stage, and also expresses in the germ cells of ovary or testis. So dmrt1 is vary important not only involved in testis growth but also in early female differentiation (including the production of oocytes and maintain of ovarian cavity). Based on the gene expression of cyp19a1a and dmrt1 and IHC results, primary male first appears at 1+5 years. The expression peak of dmrt1 indicates that 2+3 years is critical time point to distinguish primary and secondary males. Sex-differentiation and endocrine related genes expressed increasingly during sex differentiation period, but treatment with MT or AI, it inhibit the female gonad germ cell production and growth、the atrophy ovarian cavity or formation of various stages of spermatogenic cyst (VSCs). MT induces musculinization which causes the decreased expression of dax1, foxL2, cyp19a1a, vasa, pcna and the increased expression of sf1 and dmrt1. Therefore, dax1, foxL2, cyp19a1a might be related with early sex differentiation and development. sf1 and dmrt1 might play an important role in male sex differentiation of E. coioides.