Academic literature on the topic 'Social chromosome'
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Journal articles on the topic "Social chromosome"
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Muers, Mary. "The social chromosome." Nature Reviews Genetics 14, no. 3 (January 29, 2013): 152–53. http://dx.doi.org/10.1038/nrg3427.
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Ruiz-Opazo, Nelson, and John Tonkiss. "Genome-wide scan for quantitative trait loci influencing spatial navigation and social recognition memory in Dahl rats." Physiological Genomics 26, no. 2 (July 2006): 145–51. http://dx.doi.org/10.1152/physiolgenomics.00019.2006.
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The genetic determinants of learning and memory have been difficult to unravel because of the complex inheritance of these forms of cognitive behavior encompassing multiple genetic and environmental factors. Indeed, genes that can account for strain and individual variations in learning and memory are largely unknown. Here we report a genome-wide scan for quantitative trait loci (QTLs) affecting spatial learning and memory and social recognition memory in an F2 population derived from Dahl rats. We detected five QTLs on chromosomes 1, 8, 11, 17, and 20 affecting spatial acquisition performance and five QTLs on chromosomes 2, 3, 9, and 20 influencing spatial accuracy (once information about the target location had been acquired). None of these QTLs overlap, indicating the existence of independent genetic determinants for these two distinct behavioral components of spatial navigation. Moreover, five QTLs affecting social recognition memory were detected, two on chromosome 9 and three on chromosome X. The chromosomal regions linked to social recognition memory performance in the rat are syntenic to regions that have been linked to autism in humans. Thus our results could have paradigmatic value in guiding the experimental investigation of similar pathways in genetic susceptibility to this disorder, which results in profound impairments in social behavior.
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Marchioro, Priscila, Lucio A. O. Campos, and Denilce M. Lopes. "First Record of a B Chromosome in Polybia fastidiosuscula Saussure (Vespidae) and Investigation of Chromatin Composition Through Microsatellite Mapping." Cytogenetic and Genome Research 160, no. 11-12 (2020): 711–18. http://dx.doi.org/10.1159/000513641.
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The characterization of karyotypes is an important aspect in understanding the structure and evolution of genomes. <i>Polybia</i> is a genus of social wasps of the family Vespidae. This genus has 58 species, but for only 8 of these chromosome number and morphology have been reported in the literature. The aim of this study was to describe and characterize the <i>Polybia fastidiosuscula</i> Saussure karyotype, presenting the first case of a B chromosome in Vespidae. In addition, we investigated the chromatin composition of this species through C-banding, base-specific fluorochrome staining, and physical mapping of 7 microsatellites and 18S rDNA. Four colonies of <i>P. fastidiosuscula</i> from Minas Gerais and Paraná states, Brazil, were analyzed. The chromosome number identified was 2n = 34, and 2 colonies presented a B chromosome. We characterized the chromatin composition of this species, analyzing the existence of different microsatellite-rich heterochromatic regions which are also enriched with AT or GC base pairs. We suggest an intraspecific origin of the B chromosome based on the homology of the heterochromatic composition with A chromosomes and also verify that the TTAGG and TCAGG sequences are not telomeric, but only microsatellites that occur in the centromeres of most chromosomes, as well as GAG and CGG.
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FERNANDES, ANDERSON, HUGO A. WERNECK, SILVIA G. POMPOLO, and DENILCE M. LOPES. "Evidence of separate karyotype evolutionary pathway in Euglossa orchid bees by cytogenetic analyses." Anais da Academia Brasileira de Ciências 85, no. 3 (September 2013): 937–44. http://dx.doi.org/10.1590/s0001-37652013005000050.
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Euglossini are solitary bees considered important pollinators of many orchid species. Information regarding chromosome organization is available for only a small number of species in this group. In the present work, the species Euglossa townsendi and E. carolina were analyzed by cytogenetic techniques to collect information that may aid the understanding of their evolution and chromosomal organization. The chromosome number found was n = 21 for males and 2n = 42 for females in the two species. The distribution and amount of heterochromatin regions differed in the two species analyzed, where they were classified as “high” or “low” heterochromatin content, similarly to what has already been performed in social bee species of the genus Melipona. Banding patterns found in this study suggest that other mechanisms may have occurred in the karyotype evolution of this group, unlike those suggested for social bees and ants. Karyotype evolution of solitary bees appears to have occurred as an event separate from other hymenopterans and did not involve chromosome fissions and heterochromatin amplification.
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Conceição, Emerson Vitor Calixto da, Aline Sayuri Minamihara, Maria Eliane Longhi Barroso, and Wagner José Martins Paiva. "Syndrome del(5)(q14~23),der(10)(p12p15)?add(10)(q26): Case report and literature review." Semina: Ciências Biológicas e da Saúde 38, no. 1supl (February 16, 2018): 243. http://dx.doi.org/10.5433/1679-0367.2017v38n1suplp243.
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Structural chromosomal mutations are changes that do not modify the number of chromosomes in the cell, but they determine the appearance of abnormal chromosomes. The aim of this study is to report the clinical and cytogenetic history of a patient carrier of a structural mutation with karyotype 46,XY,del(5)(q14~23),der(10)(p12p15)?add(10)(q26) attended by the Genetic Counseling Service of the State University of Londrina. The patient (ABT) is male, had 1 year and 9 months on the day of the examination, normally born, full term (38 weeks) with Psychomotor Development Retardation (PDR) and without other complications. At birth, ABT’s mother was 25 years old and his father was 31 years old. The x-ray, urine analysis, pre- and postnatal ultrasonography, parasitological, ophthalmologic, gastrointestinal and neurological exams do not reveal changes. At the time of cytogenetic examination, the patient underwent surgery for the treatment of esophagogastric reflux and inguinal hernia. Currently, ABT follows up with Pediatrician, Social Worker, Physiotherapist, Speech Therapist, Neuropediatrician, Nutritionist and Ophthalmologist. These findings, particularly PDR, were consistent with the rare syndrome of the 10q + chromosome, since only ten cases of trisomy for the distal segment of the major arm of chromosome 10 (10q +) were described. Excluding the PDR, other characteristics were not found in the trial. Structural chromosomal syndromes represent an opportunity to understand clinical phenotypes and become important in gene mapping, especially when associated with molecular genetic techniques, the next step in diagnostic genetic research. In this way, the patient follows the treatment of the symptomatology.
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MCPHIELALMANSINGH, A., L. TEJADA, J. WEAVER, and E. RISSMAN. "Sex chromosome complement affects social interactions in mice." Hormones and Behavior 54, no. 4 (September 2008): 565–70. http://dx.doi.org/10.1016/j.yhbeh.2008.05.016.
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Fitrianingrum, Iit, Annastasia Ediati, Tri Indah Winarni, and Sultana MH Faradz. "The Evaluation of Parental Acceptance Towards Children with Sex Chromosomal Disorders of Sex Development Using A Mixed-Method." Journal of Biomedicine and Translational Research 7, no. 1 (April 21, 2021): 14–21. http://dx.doi.org/10.14710/jbtr.v7i1.10710.
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Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family. Parents’ reactions after discovering this health problem vary greatly, such as being in a state of shock, confusion, or self-blame. However, parents’ acceptance is extremely important for better quality of caring, to the healthy social and emotional child development, and to make the best decisions regarding gender assignment.Objective: To describe the acceptance process of parents that have children with sex chromosomes mosaicism DSD.Methods: This study used a mixed-method with a sequential explanatory approach, which was preceded by quantitative data collection followed by qualitative. The total respondents consisted of 14 mothers and 12 fathers of 14 sex chromosome mosaicism DSD patients with XX/XY, X/XY, XYY or XXY variants. Quantitative data were collected using the Indonesian version of the Parental Acceptance-Rejection Questionnaire (PARQ), and interviews were conducted to determine the acceptance process.Results: Most acceptance cases were based on the surgical stage completion in which a higher number of mothers (71.43%) than fathers (50%).Conclusion: It is uneasy for parents to accept children with sex chromosome mosaicisms DSD, hence the fathers struggle more than mothers in accepting those affected. To the best of our knowledge this is the first study in Indonesia to help parent understand and accept their child condition.
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Maxson, Stephen C., Anne Didier-Erickson, and Sonoko Ogawa. "The Y chromosome, social signals, and offense in mice." Behavioral and Neural Biology 52, no. 2 (September 1989): 251–59. http://dx.doi.org/10.1016/s0163-1047(89)90369-5.
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Volkov, A. N., and L. V. Nacheva. "Сytogenetic techniques in current biomedical research. part i: history and theoretical basis of human cytogenetics." Fundamental and Clinical Medicine 6, no. 4 (December 28, 2021): 142–50. http://dx.doi.org/10.23946/2500-0764-2021-6-4-142-150.
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Cytogenetics is an essential part of human genetics which studies the structure of chromosomes and their collection which is called karyotype. Cytogenetic techniques are employed while interrogating DNA organisation and compaction. Analysis of the chromosomal structure contributes to uncovering the molecular basis of various cellular processes in normal and pathological conditions. Furthermore, spectrum and frequency of chromosome abnormalities serves as an indicator of mutagenic effects. Cytogenetic techniques became indispensable for discovering the genetic causes of human diseases at different stages of ontogenesis. Genetic abnormalities are a common cause of impaired reproductive function, abnormal pregnancy, and neonatal malformations. Genetic screening for chromosomal abnormalities and congenital anomalies is a powerful tool for reducing the genetic load in human populations as well as disease, psychological and social burden on families and societies. This paper begins the cycle of lectures on molecular basis of human cytogenetics, cytogenetic techniques, and the corresponding research and clinical applications. The lecture is primarily aimed at biomedical students and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.
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Reue, Karen, and Carrie B. Wiese. "Illuminating the Mechanisms Underlying Sex Differences in Cardiovascular Disease." Circulation Research 130, no. 12 (June 10, 2022): 1747–62. http://dx.doi.org/10.1161/circresaha.122.320259.
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Sex is a key risk factor for many types of cardiovascular disease. It is imperative to understand the mechanisms underlying sex differences to devise optimal preventive and therapeutic approaches for all individuals. Both biological sex (determined by sex chromosomes and gonadal hormones) and gender (social and cultural behaviors associated with femininity or masculinity) influence differences between men and women in disease susceptibility and pathology. Here, we focus on the application of experimental mouse models that elucidate the influence of 2 components of biological sex—sex chromosome complement (XX or XY) and gonad type (ovaries or testes). These models have revealed that in addition to well-known effects of gonadal hormones, sex chromosome complement influences cardiovascular risk factors, such as plasma cholesterol levels and adiposity, as well as the development of atherosclerosis and pulmonary hypertension. One mechanism by which sex chromosome dosage influences cardiometabolic traits is through sex-biased expression of X chromosome genes that escape X inactivation. These include chromatin-modifying enzymes that regulate gene expression throughout the genome. The identification of factors that determine sex-biased gene expression and cardiometabolic traits will expand our mechanistic understanding of cardiovascular disease processes and provide insight into sex differences that remain throughout the lifespan as gonadal hormone levels alter with age.
Dissertations / Theses on the topic "Social chromosome"
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Thomson, Allyson K. "Parental and carer responses to Angelman syndrome and Prader-Willi syndrome." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2011. https://ro.ecu.edu.au/theses/434.
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The research project undertaken as part of this thesis was designed to assess family stress levels and the use of coping strategies among the carers of people with an intellectual disability caused by Angelman syndrome (AS) or Prader-Willi syndrome (PWS). Both syndromes are genomic imprinting disorders that arise from disruptions in genes located within human chromosome 15q11-q13. Although the disease phenotypes are quite distinct, the genetic mechanisms involved are common to both syndromes but involve paternally-derived mutations in PWS as opposed to maternal mutations in AS. Previous investigations in Western Australia (WA) indicated that people with AS and PWS experience substantial ill health over the life course, and require more frequent hospital-based care than their typically-developing peers (Thomson, 2005; Thomson, et al., 2006a; b; Thomson, et al., 2007). A high proportion of the people identified in the earlier study were resident in the family home and many relied on family carers for assistance with activities of daily living. Studies of the families of people with intellectual and developmental disabilities (IDD) from other causes have shown that family carers often experience considerable stress through the caring role, especially as their offspring reach adulthood and beyond (e.g., Baxter, et al., 2000; Benson & Karlof, 2009; Glidden & Natcher, 2009). Information regarding the family carers of people with AS and PWS is limited and therefore this study examines the family aspects of caring for individuals with these disorders. Participants were recruited by means of invitation letters sent by staff of Disability Services WA and Genetic Services WA, and by presentations by the candidate to the Western Australian branches of the Angelman Syndrome Association and the Prader-Willi Association. Data were collected using postal questionnaires and by face-to-face interview with family carers. The detailed information collected at individual level on people with AS (n = 11) or PWS (n = 5) included demographic data, the nature and extent of their care needs, and their clinical and behavioural profiles. Family carers (n = 21) also provided personal demographic information, rated their own life satisfaction and health levels, and participated in the Family Stress and Coping Interview (FSCI).
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Keenan, Lisa A. "Family Environment, Social Support, and Psychological Distress of Women Seeking BRCA1 and BRCA2 Genetic Mutation Testing." Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3240/.
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Shared characteristics and predictors of psychological distress are beginning to be identified in research on women seeking genetic testing for BRCA1 and BRCA2 gene mutations. This study further explored patterns of psychological distress for 51 community women waiting to receive such genetic test results. There was no significant relationship between psychological distress and family cancer history, personal cancer history, social support networks, and family environment. Women in this sample tended to rely more on females and relatives for support than males and friends. Social support satisfaction was not related to gender or number of relatives providing support. Thirty-four of the 36 women classified on the family environment type were from Personal Growth-Oriented families. Comparisons with normal and distressed family means revealed increased cohesion and expressiveness with decreased conflict, indicative of supportive family environments. Limitations and implications are discussed.
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Capredon, Mélanie. "Histoire biologique d'une population du sud-est malgache : les Antemoro." Phd thesis, Université de la Réunion, 2011. http://tel.archives-ouvertes.fr/tel-00703684.
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Entre le XIème et le XVIème siècle, la Mer des Indes fut le théâtre de nombreux mouvements populationnels aux fins essentiellement commerciales ou coloniales. Madagascar se trouve à la croisée des mondes asiatiques et africains. La côte sud-est malgache a vu l'arrivée de plusieurs migrations : la dernière, probablement vers la fin du XVème siècle, serait celle des Antemoro dont une partie d'entre eux se réclame d'une origine arabe et se rattache à La Mecque. L'éthnie des Antemoro a fait l'objet de nombreuses études anthropologiques et linguistiques. Néanmoins, le débat sur l'origine des migrants fait toujours l'objet d'hypothèses contradictoires. Leurs origines génétiques pourraient ainsi être l'Arabie, l'Afrique de l'Est, l'Inde ou encore l'Asie du Sud-Est à une époque où ces régions étaient déjà islamisées. Ce travail a consisté à étudier la diversité génétique d'une population Antemoro afin d'apporter des éléments de réponse à la question de leur origine biologique. Ce projet interdisciplinaire a pour objectif de mettre en relation l'anthropologie culturelle et sociale avec l'anthropologie biologique. Le polymorphisme du chromosome Y a été étudié afin de rechercher les origines des lignées paternelles par l'analyse de 17 marqueurs microsatellites ainsi que des mutations ponctuelles de l'ADN de la partie non recombinante du chromosome Y. De même, la variabilité génétique des lignées maternelles a été analysée par séquençage des régions hypervariables I et II de l'ADN mitochondrial, et par la définition de polymorphismes bialléliques dans sa région codante. Nous avons mis en évidence la présence de deux haplogroupes du chromosome Y chez certains groupes Antemoro, qui les différencient de la diversité habituellement rencontrée dans les populations malgaches. Bien que la majeure partie des Antemoro entre dans la diversité observée en Afrique sub-Saharienne et en Asie du Sud-Est, quelques haplotypes, des lignées paternelles, les lieraient au Moyen-Orient. Les lignées maternelles, quant à elles, ne les différencient pas de celles des autres populations malgaches. L'isolat génétique formé par certaines " pseudo-castes " Antemoro confirme bien l'isolat culturel. Ce travail apporte une nouvelle vision de la diversité génétique humaine à Madagascar.
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Amory, Sylvain. "La diffusion des gènes de la période protohistorique à l'époque actuelle dans le complexe spatial Altaï-Baïkal." Phd thesis, Ecole des Hautes Etudes en Sciences Sociales (EHESS), 2007. http://tel.archives-ouvertes.fr/tel-00136132.
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Au sein de la Sibérie Orientale, l'origine des Yakoutes reste une énigme qui demeure non résolue par les études classiques. Les Yakoutes représentent en effet le seul peuple d'éleveurs de bétail et de chevaux au sein d'un ensemble de populations composé de chasseurs et d'éleveurs de rennes. Leur langue, mélange de mots d'origine turque et mongole, ainsi que leurs pratiques culturelles accentuent encore ce contraste avec les populations alentour. L'analyse moléculaire de spécimens yakoutes anciens apparaissait comme bien adaptée à l'étude de la formation de ce peuple. En effet, l'évolution récente des techniques de biologie moléculaire rend aujourd'hui possible l'analyse génétique des populations du passé et les conditions environnementales rencontrées en Sibérie Orientale sont particulièrement propices à la conservation des acides nucléiques.
L'étude de plus de 60 sujets anciens provenant de Yakoutie Centrale, a permis d'obtenir des résultats originaux concernant, d'une part, l'aspect moléculaire de ce travail et d'autre part, l'ethnogenèse yakoute. Ces résultats ont notamment permis de souligner la très grande qualité des échantillons provenant de Sibérie Orientale. Il a ainsi été possible d'étudier des marqueurs génétiques rarement analysables dans les études d'anthropologie moléculaire, comme les STR autosomaux et du chromosome Y, et d'obtenir des résultats uniques sur des substrats difficiles. Cet ensemble de facteurs a conduit à l'obtention de données dont l'authenticité est manifeste. En outre, le nombre important de sujets étudiés ainsi que la mise en parallèle de nouveaux protocoles sur plusieurs types de prélèvements ont permis d'apporter des informations sur les propriétés de ces différents substrats.
La comparaison des résultats collectés pour le chromosome Y et l'ADN mitochondrial des sujets anciens avec les populations voisines mais également du sud de la Sibérie, ont permis de dégager de nouvelles hypothèses concernant les origines des lignées paternelles et maternelles des Yakoutes. L'influence méridionale semble confirmée par notre étude, mais nos résultats mettent également en avant que des contacts anciens, précédant les migrations déjà proposées, ont du se produire entre les peuples nomades des steppes et les populations de Sibérie Orientale. De plus, la population yakoute apparaît extrêmement stable au cours des siècles malgré des changements notables dans les influences culturelles et l'arrivée des colons russes au XVIIIième siècle. Ainsi, certaines lignées masculines, spécifiques à la population yakoute, montrent une pérennité exceptionnelle puisqu'elles se sont maintenues depuis le XVième siècle jusqu'à nos jours, avec des fréquences très importantes.
La qualité des données obtenues ainsi que les conclusions qui ont pu être proposées suite à ce travail de recherche confirment à nouveau la pertinence de la mise en œuvre d'un approche moléculaire dans la compréhension de la formation et de l'organisation des populations du passé.
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Friedenberg, Evan Serio. "A Look at the Causes of Gender Identity with the Help of Four Core Genotype Mice." Scholarship @ Claremont, 2012. http://scholarship.claremont.edu/scripps_theses/130.
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The purpose of this project is to better understand the influences underlying gender differences in the brain using Four Core Genotype mice. Four Core Genotype mice are transgenic mice in which the SRY gene has been translocated from the Y chromosome to another location. This enables separation of the genetic sex and gonadal sex. For example, there are female mice based on sexual organs but their chromosomes are XY(UY- in mice). This allows us to determine whether sexual differentiation in the brain is due to genes or hormones. In this project, I looked at a sexually dimorphic area of the brain, the Bed Nucleus of the Stria Terminalis (BNST), which is twice as large in males than in females. I hypothesize that both chromosomes and gonadal hormones play a part in sexually differentiating the brain including the BNST and thus I predict that the size of the BNST will be the same in XX males (UUSRY) and XY females (UY-). I measured the BNST from five XX female (UU) and five XY male(UY-SRY) four core genotype mouse brains and confirmed that the BNST is larger in males than in females, as it is in normal mice (p= .057). I processed and measured the size of the BNST in ten brains of XX males and XY females to see if the size of the BNST matches the chromosomes or the gonads. The results had a trend in the data that suggested chromosomes play more of an effect on sexual differentiation of the BNST. The overall goal of this project is to contribute to research examining the causes of gender identity in humans by relating this work to other works in the field.
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Ganem, Guila. "Commensalisme, fonction corticosurrénalienne et évolution chromosomique chez la souris domestique." Montpellier 2, 1991. http://www.theses.fr/1991MON20053.
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Ce travail s'integre dans une problematique generale cherchant a determiner quels aspects de l'environnement de la souris domestique peuvent participer a l'etablissement d'une divergence chromosomique (par suite de fixation de fusions robertsoniennes) dans certaines de ses populations. La souris domestique occupe deux types d'habitat exterieur et commensal. Le phenomene robertsonien est correle avec l'habitat commensal. Ici le commensalisme est considere dans ses aspects sociaux resultant des fortes densites et de la reproduction continue dans ce type d'habitat. La sensibilite des individus de differentes populations a un stress psychogenique est mesuree a l'aide d'un indice physiologique: le taux de corticosterone plasmatique. Differents stress sont experimentes: la capture, l'exposition a un environnement nouveau et la rencontre d'un congenere inconnu. La corticosteronemie basale en periode diurne permet d'evaluer la reactivite quotidienne des individus. Ces differents indices permettent de differencier au sein de chaque population etudiee les femelles plus emotives que les males, et parmi les differentes populations de distinguer celles qui proviennent d'un habitat commensal de celles provenant de l'habitat exterieur. En habitat commensal les individus montrent une faible sensibilite vis-a-vis d'un stress psychogenique et une forte reactivite quotidienne, le contraire est observe chez les souris exterieures. Les resultats sont interpretes en terme d'adaptation. Les souris robertsoniennes semblent montrer une strategie mixte qui pourrait etre a l'origine d'un avantage adaptatif. Un nouveau modele sur la mise en place du phenomene est propose
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Hernández-Fernández, Antoni. "Las leyes de la lingüística en los sistemas de comunicación." Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/145682.
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Esta tesis se presenta como compendio de publicaciones. Se hace una breve revisión de la lingüística cuantitativa y algunas de sus leyes: la ley de Zipf, la ley de Menzerath-Altmann y la ley de brevedad. Se propone además el principio de compresión en ciencia cognitiva y lenguaje.
Para empezar, se presenta la ley de Zipf y se revisa la relación entre el exponente de la distribución de frecuencias y el exponente de la relación potencial entre la frecuencia y su rango. Se demuestra que ambos exponentes coinciden únicamente cuando su valor es el número de oro.
Tras revisar las desviaciones de la ley de Zipf en el lenguaje, se incluye el primer estudio de estas desviaciones realizado con corpus de enfermos de Alzheimer, con el ánimo de detectar la evolución verbal de la enfermedad, lo que en el futuro podría ayudar a mejorar la detección precoz de la patología.
Al explicar la ley de Menzerath-Altmann se muestra su no trivialidad estadística, y se aplica al estudio del nivel cromosómico del genoma y su relación con los modelos de fragmentación aleatoria.
Posteriormente, tras exponer la ley de brevedad, se corroboró su presencia en los corpus de siete lenguas y se exploró, con diversos resultados, en el repertorio de delfines y en las emisiones de primates no humanos y cuervos. Seguidamente se presentan algunos principios generales que rigen la comunicación, entre ellos el principio de compresión, que tiene como consecuencia la ley de brevedad. El principio de compresión, originario de la teoría de la información, se propone para la ciencia cognitiva y la comunicación.
Por último, se explora el fenómeno de la comunicación química, más allá del ADN. Tras revisar los conceptos de infoquímico, feromona y aleloquímico, se analiza cuantitativamente la base de datos Pherobase, encontrando dos regímenes de la ley de Zipf en la distribución de infoquímicos según el grado o número de especies que utiliza cada sustancia, lo que demostraría que también hay un repertorio químico nuclear y otro periférico en la comunicación química, en analogía a lo que sucede en el lenguaje.vThis thesis is presented as a compendium of articles. It is a brief review of quantitative Linguistics and some of its laws: Zipf's law, Menzerath-Altmann’s law and brevity’s law. Also we propose and intend to integrate the principle of compression in cognitive science and language. First, we revisit Zipf’s law and the relationship between power law distribution of a magnitude and the corresponding power relationship between the magnitude of a certain element and its rank. We show that the exponents of the two power laws coincide when its value is the famous golden number. Deviations from the Zipf’s exponent in the words of mid-frequency for GDS5 patients with Alzheimer’s Disease (AD) have been observed, but not for GDS4 patients, showing that it is possible to predict the evolution from one disease stage to another in the AD and determine when syntax is altered, exploring the simple oral production of the patient. After that, we demonstrate that words follow Zipf’s law of brevity in human language, and conformity to this general pattern has been seen in the behavior of a number of other species. It has been argued that the presence of this law is a sign of efficient coding in the information theoretic sense, and the law has been connected with compression’s principle, the information theoretic principle of minimizing the expected length of a code. We argue that compression is a general principle of animal behavior that reflects selection for efficiency of coding. Finally, we explore Menzerath-Altmann’s law in genomes, aplying quantitative linguistics powerful tools for investigating nontrivial connections between human language and genomes. The distribution of infochemicals across species is investigated when they are ranked by their degree and we find that a double Zipf (a Zipf distribution with two regimes with a different exponent each) is the model yielding the best fit. This suggests that the world wide repertoire of infochemicals contains a chemical nucleus shared by many species and reminiscent of the core vocabularies found for human language in dictionaries or large corpora.
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Wide, Bowman Ulla. "Turner Syndrome psychological and social aspects of a sex-chromosome disorder /." 2000. http://catalog.hathitrust.org/api/volumes/oclc/50567240.html.
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Sethuntsa, Molelekeng. "The development of a therapeutic approach for the treatment of individuals with Prader-Willi syndrome and their primary caregivers." Thesis, 2017. http://hdl.handle.net/10500/23826.
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Prader-Willi syndrome (PWS) is a genetic disorder resulting from a mutation of chromosome 15. It can manifest in physiological characteristics, cognitive impairment, behavioural problems, and sometimes also psychiatric disturbances. Taking care of an individual with PWS has a detrimental impact on the primary caregiver and also affects others around them. This considered, the current study aimed to learn more about the experiences and challenges of individuals diagnosed with PWS and their primary caregivers, in Gauteng and North-West Provinces, South Africa. Purposive sampling was used to select five families which then participated in the study. Qualitative research was used to conduct the study. As it was also crucial to generate a comprehensive understanding of participant experiences, collective instrumental case studies were used ̶ making use of participatory action research, ethnography and elements of auto-ethnography. Data were gathered by conducting semi-structured interviews, which were then analysed using thematic analysis. The data were organized around certain topics and common themes which emerged in each case study and the findings were then integrated with the literature which had been extensively reviewed. Based on these experiences and challenges, interventions were suggested that addressed the challenges and needs of the PWS individuals, their caregivers and families, and those around them (including school teachers). The main findings confirmed that not all individuals diagnosed with PWS manifest all the physiological characteristics, psychiatric disturbances and behavioural problems which have been documented in the literature. Furthermore, the symptoms vary in severity from one individual to the next. Cognitive impairment was, however, common to all individuals in the study. The findings also suggest that having a child diagnosed with PWS has a significantly negative impact on the primary caregiver, and taking care of PWS children is emotionally overwhelming and time-consuming. The use of a client-centred approach, implementing behaviour therapy techniques and doing psycho-education, all proved to be effective in managing some of these behaviours displayed by the individual patients and the challenges experienced by primary caregivers.Psychology
Ph. D. (Psychology)
Books on the topic "Social chromosome"
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Bogdanov, I︠U︡ F. Sinaptonemnyĭ kompleks: Indikator dinamiki meĭoza i izmenchivosti khromosom. Moskva: Tov-vo nauch. izd. KMK, 2007.
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Risky business: Genetic testing and exclusionary practices in the hazardous workplace. Cambridge [England]: Cambridge University Press, 1991.
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Handbook of genomics and the family: Psychosocial context for children and adolescents. New York: Springer, 2010.
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Nelkin, Dorothy. Dangerous diagnostics: The social power of biological information. New York: Basic Books, 1989.
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F, Cranor Carl, ed. Are genes us?: The social consequences of the new genetics. New Brunswick, N.J: Rutgers University Press, 1994.
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Duster, Troy. Backdoor to eugenics. 2nd ed. New York, NY: Routledge, 2002.
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Duster, Troy. Backdoor to eugenics. New York: Routledge, 1990.
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Blood matters: A journey along the genetic frontier. London: Granta, 2009.
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Nelkin, Dorothy. Dangerous diagnostics: The social power of biological information : with a new preface. Chicago: University of Chicago Press, 1994.
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1923-, Kennet Wayland, Robinson Paul, and Association Descartes, eds. Parliaments and screening: A conference on the ethical and social problems arising from testing and screening for HIV and AIDS : the role of parliaments and the media : conference report and studies of the handling of bioethics in the twelve national parliaments of the European Union. London: John Libbey, 1995.
Find full textBook chapters on the topic "Social chromosome"
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Menezes, Rodolpho S. T. "Chromosome Diversity and Evolution in Neotropical Social Wasps." In Neotropical Social Wasps, 257–66. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-53510-0_14.
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Mastergeorge, Ann M., and Jacky Au. "Fragile X: A Family of Disorders." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0024.
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Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability known, and it is the most common single gene disorder associated with autism (Belmonte and Bourgeron 2006; Reddy 2005). It is caused by the lack or deficiency of the FMR1 protein, FMRP (Loesch et al. 2004b). The typical physical features of FXS include prominent ears, hyperextensible finger joints, flat feet, soft skin, and in adolescence and adulthood large testicles (macroorchidism) and a long face (Hagerman 2002b). The behavioral features include poor eye contact, hyperarousal to stimuli, anxiety, hyperactivity, attention deficit, impulsivity, hand stereotypies (such as hand biting and hand flapping), and social deficits including autism and autism spectrum disorder (ASD) (Budimirovic et al. 2006; Clifford et al. 2007; Hall et al. 2008b; Hatton et al. 2006b; Sullivan et al. 2007b). Fragile-X syndrome was first reported by Lubs (1969) in two brothers who had intellectual disability and the appearance of a marker X chromosome, which is a fragile site on their X chromosome. It was later detected that this fragile site on the X chromosome only occurred when the chromosomes were studied in a folate-deficient tissue culture media (Sutherland 1977). Therefore cytogenetic studies were utilized to document cases of FXS throughout the 1980s until the Fragile X Mental Retardation 1 gene (FMR1) was discovered in 1991 (Verkerk et al. 1991). The FMR1 gene was found to have a trinucleotide (CGG) repeat sequence at the 5’ untranslated region, with the normal range later determined to be up to 44 repeats, a gray zone of 45–54 repeats, a premutation of 55–200 repeats, and a full mutation range of more than 200 repeats (Maddalena et al. 2001). Those individuals with the full mutation have a deficit or absence of the FMR1 protein (FMRP) that causes the physical, behavioral, and cognitive features of FXS (Loesch et al. 2004b). Females with the full mutation have another X chromosome that is producing FMRP, depending on the activation ratio (AR) or the percentage of cells that have the normal X chromosome as the active X chromosome.
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Lenning, Ole Bernt, Ronny Myhre, May Sissel Vadla, and Geir Sverre Braut. "A Phylogenetic Approach to the Uneven Global Distribution of the COVID-19 Pandemic." In Handbook of Research on Historical Pandemic Analysis and the Social Implications of COVID-19, 105–26. IGI Global, 2022. http://dx.doi.org/10.4018/978-1-7998-7987-9.ch009.
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A possible role of Y chromosomal haplogroups in COVID-19 mortality is discussed without claiming causality. The mortality of COVID-19 seems unequally distributed in different populations and statistically significant regional covariation is presented between COVID-19 mortality and the haplogroup Y-R1b. Y-R1b is suggested as a possible marker for mortality in the first wave of the pandemic affecting the Western Europe. September 2020 the pandemic involved also Eastern Europe severely in a second wave, while South East Asia, with a very high frequency of Y-0, had strikingly low COVID-19 mortality rate. Eastern Europe is dominated by Y-haplogroups (i.e., Y-R1a), with close ancestry to Y-R1b. Molecular mechanisms mediated by the Y chromosome involved in COVID-19 mortality are discussed, presenting a possible role of KDM5D in androgen receptor modulation and regulation of TMPRSS2 known to enable SARS-CoV-2 binding to ACE2 and facilitating virus entrance into the cell and virus replication. Sex bias and comorbidities point at the role of variations in the Y-chromosomal phylogeny.
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Belger, Aysenil, and Sarah J. Hart. "Cognitive and Behavioral Manifestations in Turner Syndrome." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0029.
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Turner Syndrome (TS) is a common genetic disorder that affects approximately 1 in 1,900 live female births. Like other sex chromosome abnormalities (SCAs), TS has high morbidity due to associated congenital abnormalities, neurodevelopmental disturbances, neurocognitive deficits, and social-behavioral problems. Many individuals with TS are not diagnosed. Those who are identified may be subject to inadequate care, bias, and discrimination because of a poor understanding of the condition among families, health care providers, and educators, especially regarding developmental profiles and outcomes. Turner syndrome results from an abnormal or missing second sex (i.e., X) chromosome, and by definition, affects only females. There is tremendous variability in the clinical presentations of individuals with TS that is likely due to the variable nature of the genetic abnormality. Approximately 50% of girls with TS have a 45X karyotype (Savendahl and Davenport 2000; Soriano-Guillen et al. 2005; Sybert and McCauley 2004), with the remainder having either a structural abnormality or mosaicism involving the X chromosome. Structural changes of the X chromosome include deletions, breakage of both arms to form a ring chromosome, or breakage and exchange in the X centromere region to form an isochromosome. Common mosaic patterns include 45,X/46,XX, 45,X/46,X,i(X), and 45, X/46,XY (Table 19.1). Correlations of clinical phenotype with cytogenetic data are further complicated by the wide range of structural abnormalities, as well as by mosaicism, differences in X-inactivation patterns, and the presence of abnormal recessive genes (Ogata and Matsuo 1995). Girls with 45X karyotype tend to be most severely affected, and there is less variability within this group than in the population as a whole. Many of the clinical manifestations of TS can be understood in the context of reduced expression of genes on the X chromosome (Neely 1994; Zinn and Ross 1998; Zinn et al. 1998). In normal females, one X chromosome is inactivated; however, the process is not complete. Genes on the X-chromosome that are not inactivated, so-called pseudoautosomal genes, are present in a cluster near the tip of the short arm and scattered elsewhere.
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Lee, Nancy Raitano, Katherine C. Lopez, Elizabeth I. Adeyemi, and Jay N. Giedd. "Sex Chromosome Aneuploidies: A Window for Examining the Effects of the X and Y Chromosomes on Speech, Language, and Social Development." In International Review of Research in Developmental Disabilities, 139–80. Elsevier, 2011. http://dx.doi.org/10.1016/b978-0-12-374478-4.00006-x.
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Ruiz-Linares, A. "Y-chromosomes and Evolution." In International Encyclopedia of the Social & Behavioral Sciences, 16653–57. Elsevier, 2001. http://dx.doi.org/10.1016/b0-08-043076-7/03090-4.
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Silva, J., T. Ribeiro, J. Gonçalves, and H. Geada. "Forensic y-str study in y-chromosome abnormalities." In Acta medicinae legalis et socialis, 87–90. Imprensa da Universidade de Coimbra, 2010. http://dx.doi.org/10.14195/978-989-26-0173-1_15.
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Gropman, Andrea L., and Ann C. M. Smith. "Neurologic Aspects of the Smith-Magenis Syndrome." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0028.
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The Smith-Magenis syndrome (SMS) is a multiple congenital anomaly and mental retardation syndrome (Greenberg et al. 1996). The clinical phenotype includes distinctive craniofacial and skeletal features that change with age, a history of infantile hypotonia, significant expressive language delay, mental retardation, stereotypies, behavioral problems, and a sleep disorder (Potocki et al., 2000; De Leersynder et al. 2001). Two genetic mechanisms can cause SMS: an interstitial deletion involving chromosome 17p11.2 (including the retinoic acid–induced 1 [RAI1] gene) or a mutation in the RAI1 gene (Smith et al. 1986; Seranski et al. 2001; Slager et al. 2003). First described by Smith and colleagues in 1982, in two severely impaired patients (Smith et al. 1982), the phenotypic spectrum has been expanded by the recognition of additional cases (Smith et al. 1986; Stratton et al., 1986). The estimated prevalence of SMS deletion cases was reported to be 1 in 25,000 (Greenberg et al. 1991). However, new cases identified in the last decade as a result of improved molecular cytogenetic techniques (including microarray technology) now suggest the incidence to be closer to 1 in 15,000 births (Elsea and Girirajian 2008). Despite this improvement in technology accounting for new cases identified in the last several years, clinical diagnosis based on phenotypic recognition is often delayed. The phenotype of SMS becomes more pronounced and recognizable with advancing age both in terms of the physical and dysmorphic characteristics, as well as in the behavioral features (Gropman et al. 2006). Infants with SMS present with hypotonia, weak hoarse cry, decreased vocalization, and complacency (Gropman et al. 1998; 2006; Martin et al. 2006; Wolters et al.,2009). Gross and fine motor skill development is delayed in the first year of life. Sensory integration problems are frequently noted. Social skills are often age appropriate, delaying diagnosis in some cases. In older children, developmental delay, in particular expressive language delays, as well as emerging behavioral difficulties (Gropman et al. 2006; Martin et al. 2006; Madduri et al. 2006) and sleep disturbance may bring patients to clinical attention.
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B. Burachik, Natalia, Ana Laura Ortiz, and Edith C. Kordon. "Discovery of BRCA Mutations: Historical Perspective of Its Scientific, Clinical and Social Impact." In BRCA1 and BRCA2 Mutations - Diagnostic and Therapeutic Implications [Working Title]. IntechOpen, 2023. http://dx.doi.org/10.5772/intechopen.108648.
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In the human genome, BRCA1 and BRCA2 (for BReast CAncer 1 and 2) genes encode for proteins involved in several functions that are crucial for the maintenance of genome stability and integrity. They participate in DNA damage response and repair pathways and, therefore, act as tumor suppressor genes. Mutations in these genes, which are located in chromosomes 17q21 and 13q13 respectively, are responsible for a great fraction of inherited breast and ovarian cancers, as well as other pathologies, such as Fanconi Anemia. Approximately 30 years ago, a report from a group of the School of Public Health at the University of California about a hypothetical gene that led to predisposition to early-onset breast cancer in certain families changed the history of breast cancer research, diagnosis, and prevention. Nowadays, the accessibility of genetic testing and the availability of different approaches as wide coverage screenings, prophylactic mastectomies, and risk-lowering drugs benefits BRCA1 and BRCA2 mutation carriers enormously. This chapter summarizes the unique trajectory of BRCA research and its scientific and social implications.
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Reilly, Judy, and Philip Lai. "Williams Syndrome." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0031.
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Williams syndrome (WS) is a rare neurodevelopmental genetic disorder stemming from a hemizygous deletion of about 20–28 genes from chromosome band 7.11.23q (Ewart et al. 1993) including the gene for elastin. Early estimates of incidence proposed 1 in 20,000 live births (Greenberg 1989), but current estimates are 1 in 7,500 (Stromme, Bjornstad, and Ramstad 2002). Williams syndrome was first recognized by a pediatrician, Dr. JCP Williams in 1961, who described a group of children with “elfin facies” and supravalvular aortic stenosis (Williams, Barratt-Boyes, and Lowe 1961). Shortly thereafter, Dr. Alois Beuren (1962) identified another group of children with similar features, including an intolerance to calcium. As such, this syndrome has also been called Williams-Beuren syndrome or infantile hypercalcemia. The early descriptions of children and adolescents with WS noted a set of characteristic facial and behavioral features: “an unusual command of language combined with an unexpectedly polite, gentle and open manner” (von Armin and Engel 1964). Twenty years later, WS caught the interest of cognitive scientists when it was seen as a possible case of spared language in the face of impaired cognition (Bellugi, Sabo, and Vaid 1988; Bellugi, Wang, and Jernigan 1994). The early studies noted that, in spite of IQs ranging from 40–70, with an average full-scale IQ of 55 (Bellugi et al. 2001) and significantly impaired visuospatial cognition, adolescents with WS had excellent language skills (Bellugi, Lai, and Wang 1997; Reilly, Klima, and Bellugi 1990). In the ensuing 20 years, recognizing WS as a unique opportunity to investigate genetic influences on brain development and cognitive and social processes, investigators have approached the puzzles of WS from multiple perspectives. In this chapter, we provide an overview of WS, focusing on its cognitive and neuropsychological profile from a developmental perspective and where known, the possible neural and genetic underpinnings of the WS profile. We close with a brief discussion of therapeutic interventions for WS. The WS deletion invariably includes the gene for elastin (ELN), which codes for an elastic protein in connective tissue that is abundant in large blood vessels such as the aorta (Lowery et al. 1995).
Conference papers on the topic "Social chromosome"
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Seman, Ali, Zainab Abu Bakar, and Azizian Mohd Sapawi. "Modeling centre-based hard and soft clustering for Y chromosome short tandem repeats (YSTR) data." In 2010 International Conference on Science and Social Research (CSSR). IEEE, 2010. http://dx.doi.org/10.1109/cssr.2010.5773869.
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Wurm, Yannick. "The evolution of social chromosomes." In 2016 International Congress of Entomology. Entomological Society of America, 2016. http://dx.doi.org/10.1603/ice.2016.94782.
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Bellos, Christos V., Charilaos Kostoulas, Konstantinos A. Stefanou, Prodromos Sakaloglou, Paris Ladias, Sofia Markoula, Aleksandros Fyraridis, Ioannis Georgiou, and Georgios S. Stergios. "A genetic platform for studying the creation of structural abnormalities of chromosomes that cause micro-deletion and micro-duplication (MMS) syndromes." In 2021 6th South-East Europe Design Automation, Computer Engineering, Computer Networks and Social Media Conference (SEEDA-CECNSM). IEEE, 2021. http://dx.doi.org/10.1109/seeda-cecnsm53056.2021.9566221.
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Pogorelov, A. R. "Территориальная дифференциация уровня заболеваемости населения Камчатского края (сравнительный аспект)." In GEOGRAFICHESKIE I GEOEKOLOGICHESKIE ISSLEDOVANIIA NA DAL`NEM VOSTOKE. ИП Мироманова Ирина Витальевна, 2019. http://dx.doi.org/10.35735/tig.2019.28.75.017.
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Актуальность изучения пространственных аспектов заболеваемости обусловлена прежде всего современной общественной значимостью охраны здоровья населения. Цель представленного исследования заключалась в территориальнодифференцированной сравнительной оценке общей заболеваемости населения Камчатского края в разрезе административных районов. Для сравнительной оценки уровня заболеваемости населения в административных районах Камчатского края выбраны два однолетних временных периода (2011 и 2018 гг.) и произведен расчет сумм установленных значений по 17 основным классам болезней МКБ10. В дальнейшем произведено итоговое ранжирование исследуемых административнотерриториальных единиц Камчатского края. Все районы распределены на пять групп по уровню общей заболеваемости населения (очень низкий, низкий, средний, высокий, очень высокий). В 2011 г. в группу очень высокого уровня общей заболеваемости вошли 4 района, высокого уровня 4, среднего уровня 1, низкого уровня 1 и очень низкого уровня 3. В 2018 г. в группу очень высокого уровня общей заболеваемости вошли 4 района, высокого уровня 2, среднего уровня 1, низкого уровня 3, очень низкого 3. Выявлено, что устойчивую позитивную позицию в 2011 и 2018 гг. сохраняет г. Вилючинск, который отличается очень низким уровнем заболеваемости. Олюторский и Тигильский районы устойчиво сохраняют негативную позицию в 2011 и 2018 гг. в группе районов с очень высоким уровнем общей заболеваемости населения. Вместе с тем обнаружено, что в Камчатском крае в 2011 и 2018 гг. сохраняется напряженность по заболеваемости населения болезнями органов дыхания, пищеварения, травмами и отравлениями, по которым в последнем исследуемом году в 9 районах наблюдалась заболеваемость выше среднего по региону. Наименее напряженная ситуация отмечена для класса врожденных аномалий и новообразований, по которым в 2011 и 2018 гг. соответственно наблюдалась заболеваемость населения выше среднего по региону.The topicality of the study of spatial aspects of the population disease rate is determined by social and economic importance of public health protecting. The purpose of this study lies in territorial assessment of the population disease rate of the Kamchatka Region by administrative districts. A comparative territorial assessment was carried out for two years (2011 and 2018). Values were established for the main classes of diseases for all administrative districts of the Kamchatka Region. The final rating is compiled for the studied administrativeterritorial units of the Kamchatka Region. This rating included five territorial groups on disease incidence rate (very high, high, medium, low, very low). In 2011, all the districts were distributed in the following order: very high 4, high 4, medium 1, low 1, very low 3. In 2018, all the districts were distributed in the following order: very high 4, high 2, medium 1, low 3, very low 3. A stable positive position is typical for one district (Vilyuchinsk). A stable negative position is typical for two districts of Koryakia (Olyutorsky, Tigilsky). We also found a negative regional situation in the population disease rate by three disease classes in 2011 and 2018 (diseases of the respiratory system diseases of the digestive system injury, poisoning and certain other consequences of external causes). Two disease classes (neoplasms congenital malformations, deformations and chromosomal abnormalities) are characterized by the lowest prevalence in districts of the Kamchatka Region.