While landscape genetics is in its infancy, it is a rapidly growing research field in part owing to the increasing
availability of powerful molecular and analytical tools. By integrating landscape ecology, spatial statistics and
population genetics, landscape genetics is allowing an unprecedented understanding of the microevolutionary
processes shaping genetic variation, which has important implications for the advance of ecological and
evolutionary knowledge. The Iberian honey bee provides a great model system to address evolutionary
questions using a landscape genetics framework. First, previous studies suggest that the Iberian honey bee has
a hybrid origin and hybrid zones have been favored by evolutionary biologists as powerful natural laboratories
to study evolutionary processes. Second, with the publication of the honey bee genome and development of
high‐density SNP markers, powerful tools are now available to dissect the relative importance of neutral and
adaptive forces in shaping the Iberian honey bee hybrid zone, a goal of central importance as it leads to more
robust inferences of demographic history and to identification of adaptive divergence. Herein, we will present
an ongoing research project on the Iberian honey bee hybrid zone where the tools of landscape genetics and
population genomics will be combined to unravel the challenging evolutionary history of the Iberian honey bee.
O que se desejou investigar foi a institucionalização da genética na Faculdade de Filosofia, Ciências e Letras da Universidade de São Paulo e o conseqüente desenvolvimento da Escola de Genética Dreyfus-Dobzhansky. Pretendeu-se descobrir quando e como se deu a introdução da genética, as áreas, os temas pesquisados e os cientistas envolvidos no desenvolvimento da genética nessa faculdade. O presente trabalho visa a "construção" de uma análise histórica da escola de genética, na qual se enfoca o papel da Faculdade de Filosofia, da ação da Fundação Rockefeller e da influência dos pesquisadores André Dreyfus e Theodosius Dobzhansky. A Escola de Genética Dreyfus-Dobzhansky foi a pioneira na pesquisa de genética e ecologia de Drosophila, além de introduzir a genética de populações, tornando-se uma referência internacional e desdobramentos da Escola Dreyfus-Dobzhansky se espalharam para várias regiões do país, formando grupos de pesquisa apoiados, principalmente, pela Fundação Rockefeller e pela Sociedade Brasileira de Genética.; It was investigated the institutionalization of Genetics in the School of Philosophy, Science and Literary of the University of São Paulo and, in consequence, the development of Dreyfus-Dobzhansky School of Genetics. The purpose is to discover when and how was the Genetics introduction...
Apresentando dois objetivos, esta pesquisa procurou primeiramente identificar os conhecimentos básicos sobre Genética para a formação de cidadãos críticos no Ensino Médio, segundo professores deste nível de ensino e docentes universitários. Já o segundo objetivo consistia em verificar como, ao estarem presentes nos livros didáticos, esses conhecimentos considerados básicos se aproximam e se distanciam dos saberes acadêmicos. Essa investigação ocorreu em dois contextos: São Paulo (São Paulo - Brasil) e Kalamazoo (Michigan - Estados Unidos). Os conhecimentos de Genética são importantes para a compreensão das várias áreas da Biologia e por sua conexão com diversos aspectos do cotidiano dos indivíduos. Trata-se de uma área em expansão, gerando reflexões sobre quais de seus tópicos são importantes para serem ensinados no âmbito escolar. Já os livros didáticos são recursos que disponibilizam aos alunos conhecimentos dessa área, os quais requerem ao mesmo tempo uma transposição didática e um rigor com relação ao conhecimento produzido pela Ciência. Desse modo, entrevistaram-se professores que lecionam Biologia no Ensino Médio e docentes que lecionam disciplinas relacionadas à Genética e Biologia Molecular nas universidades (Universidade de São Paulo e Western Michigan University). Os dados foram analisados quantitativamente e qualitativamente. Nos livros...
Após a conclusão do Projeto Genoma Humano, uma quantidade imensurável de conhecimentos genômicos surgiu e, atualmente, se torna essencial sua integração à prática profissional de enfermeiros. Esses conhecimentos vêm transformando o modelo de atenção à saúde, com implicações para a enfermagem e repercussões no ensino, na assistência e na pesquisa. Embora já seja reconhecida a importância da genética e da genômica na educação de enfermeiros, levantamentos realizados em diversos países mostram que esses conteúdos ainda são limitados nos cursos de graduação desses profissionais, sendo desconhecida a situação nas escolas de enfermagem do Brasil. O principal objetivo desse estudo foi identificar as oportunidades existentes de educação em genética e genômica, oferecidas por cursos brasileiros que graduam enfermeiros. Trata-se de pesquisa exploratória, tipo survey, com delineamento transversal e abordagem quantitativa, realizada no período de fevereiro de 2011 a novembro de 2012. A amostra de conveniência compreendeu 311 Instituições de Ensino Superior cadastradas junto ao Ministério da Educação. Após aprovação do Comitê de Ética em Pesquisa, os dados foram coletados por meio de questionário eletrônico...
In recent years, there has been a remarkable increase in both the rate of acquiring new information about human genetics and the importance of human genetics for modern health care. As a result, human genetics educators have queried whether the teaching of human genetics in North-American medical schools has kept pace with these increases. To address this question, a survey of these medical schools was undertaken to assess how human geneticists perceive the teaching of human genetics in their respective institutions. The results of the survey, begun and completed in 1985, indicate the following: (1) the teaching of human genetics in medical schools is extremely variable from one institution to another, with some schools having no identifiable human genetics teaching at all; (2) the relevance of human genetics to other basic science and clinical disciplines apparently leads to noncategorical or fragmented teaching of human genetics, which may also contribute to the absence of a specific medical school course in the subject; and (3) there is a need for closer collaboration between human genetics educators and their respective medical school administrators and curriculum committees.
An upper-level genetics research course was developed to expose undergraduates to investigative science. Students are immersed in a research project with the ultimate goal of identifying proteins important for chromosome transmission in mitosis. After mutagenizing yeast Saccharomyces cerevisiae cells, students implement a genetic screen that allows for visual detection of mutants with an increased loss of an ADE2-marked yeast artificial chromosome (YAC). Students then genetically characterize the mutants and begin efforts to identify the defective genes in these mutants. While engaged in this research project, students practice a variety of technical skills in both classical and molecular genetics. Furthermore, students learn to collaborate and gain experience in sharing scientific findings with others in the form of written papers, poster presentations, and oral presentations. Previous students indicated that, relative to a traditional laboratory course, this research course improved their understanding of scientific concepts and technical skills and helped them make connections between concepts. Moreover, this course allowed students to experience scientific inquiry and was influential for students as they considered future endeavors.
An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, tracking, hunting, and so forth are likely to be controlled, at least in part, at the genetic level. Recent studies in canine genetics suggest that small numbers of genes control major morphologic phenotypes. By extension, we hypothesize that at least some canine behaviors will also be controlled by small numbers of genes that can be readily mapped. In this review, we describe our current understanding of a representative subset of canine behaviors, as well as approaches for phenotyping, genome-wide scans, and data analysis. Finally, we discuss the applicability of studies of canine behavior to human genetics.
National educational organizations have called upon scientists to become involved in K–12 education reform. From sporadic interaction with students to more sustained partnerships with teachers, the engagement of scientists takes many forms. In this case, scientists from the American Society of Human Genetics (ASHG), the Genetics Society of America (GSA), and the National Society of Genetic Counselors (NSGC) have partnered to organize an essay contest for high school students as part of the activities surrounding National DNA Day. We describe a systematic analysis of 500 of 2443 total essays submitted in response to this contest over 2 years. Our analysis reveals the nature of student misconceptions in genetics, the possible sources of these misconceptions, and potential ways to galvanize genetics education.
Mutagenesis screens and analysis of mutant phenotypes are one of the most powerful approaches for the study of genetics. Yet genetics students often have difficulty understanding the experimental procedures and breeding crosses required in mutagenesis screens and linking mutant phenotypes to molecular defects. Performing these experiments themselves often aids students in understanding the methodology. However, there are limitations to performing genetics experiments in a student laboratory. For example, the generation time of laboratory model organisms is considerable, and a laboratory exercise that involves many rounds of breeding or analysis of many mutants is not often feasible. Additionally, the cost of running a laboratory practical, along with safety considerations for particular reagents or protocols, often dictates the experiments that students can perform. To provide an alternative to a traditional laboratory module, we have used Scenario-Based-Learning Interactive (SBLi) software to develop a virtual laboratory to support a second year undergraduate course entitled “Genetic Analysis.” This resource allows students to proceed through the steps of a genetics experiment, without the time, cost, or safety constraints of a traditional laboratory exercise.
Structured inquiry approaches, in which students receive a Drosophila strain of unknown genotype to analyze and map the constituent mutations, are a common feature of many genetics teaching laboratories. The required crosses frustrate many students because they are aware that they are participating in a fundamentally trivial exercise, as the map locations of the genes are already established and have been recalculated thousands of times by generations of students. We modified the traditional structured inquiry approach to include a novel research experience for the students in our undergraduate genetics laboratories. Students conducted crosses with Drosophila strains carrying P[lacW] transposon insertions in genes without documented recombination map positions, representing a large number of unique, but equivalent genetic unknowns. Using the eye color phenotypes associated with the inserts as visible markers, it is straightforward to calculate recombination map positions for the interrupted loci. Collectively, our students mapped 95 genetic loci on chromosomes 2 and 3. In most cases, the calculated 95% confidence interval for meiotic map location overlapped with the predicted map position based on cytology. The research experience evoked positive student responses and helped students better understand the nature of scientific research for little additional cost or instructor effort.
Exposure to genetic and biochemical experiments typically occurs late in one’s academic career. By the time students have the opportunity to select specialized courses in these areas, many have already developed negative attitudes toward the sciences. Given little or no direct experience with the fields of genetics and biochemistry, it is likely that many young people rule these out as potential areas of study or career path. To address this problem, we developed a 7-week (∼1 hr/week) hands-on course to introduce fifth grade students to basic concepts in genetics and biochemistry. These young students performed a series of investigations (ranging from examining phenotypic variation, in vitro enzymatic assays, and yeast genetic experiments) to explore scientific reasoning through direct experimentation. Despite the challenging material, the vast majority of students successfully completed each experiment, and most students reported that the experience increased their interest in science. Additionally, the experiments within the 7-week program are easily performed by instructors with basic skills in biological sciences. As such, this program can be implemented by others motivated to achieve a broader impact by increasing the accessibility of their university and communicating to a young audience a positive impression of the sciences and the potential for science as a career.
To help genetics instructors become aware of fundamental concepts that are persistently difficult for students, we have analyzed the evolution of student responses to multiple-choice questions from the Genetics Concept Assessment. In total, we examined pretest (before instruction) and posttest (after instruction) responses from 751 students enrolled in six genetics courses for either majors or nonmajors. Students improved on all 25 questions after instruction, but to varying degrees. Notably, there was a subgroup of nine questions for which a single incorrect answer, called the most common incorrect answer, was chosen by >20% of students on the posttest. To explore response patterns to these nine questions, we tracked individual student answers before and after instruction and found that particular conceptual difficulties about genetics are both more likely to persist and more likely to distract students than other incorrect ideas. Here we present an analysis of the evolution of these incorrect ideas to encourage instructor awareness of these genetics concepts and provide advice on how to address common conceptual difficulties in the classroom.
The Human Genetics Society of Australasia is a vibrant professional society with more than 900 members that promotes and regulates the practice of human and medical genetics in Australia and New Zealand. The growth of human genetics was stimulated by the development of diagnostic clinical cytogenetics laboratories in the early to mid 1960s. This coincided with the recognition by medical specialists, mainly paediatricians, that genetic disorders, especially inborn errors of metabolism and birth defects, were of clinical interest and potentially challenging areas for their skills. The organisation of professionals in human genetics was slow to evolve. There was an early Western Australian Human Genetics Society and the cytogenetics community had begun to meet annually from about 1966 but was coordinated by a mailing list rather than as a formal organisation. In 1976, as part of the celebrations of the Centenary Year of the Adelaide Children’s Hospital, a clinical genetics meeting involving several high profile international speakers and most of the senior medical geneticists in Australia and New Zealand along with the annual meeting of the loose knit cytogeneticists group agreed that a small working group be charged with setting up a Human Genetics Society. The Society was formally incorporated in South Australia in 1977.; Grant R Sutherland
An elementary course in human heredity for students not planning to major in the sciences can be based on current scientific literature and on the popular media. Examinations are constructed from questions on recent abstracts obtained from PubMed. The course is designed to promote writing skills in the sciences, and students write two papers in the course of a quarter. In the first paper, students trace the primary source of media reports on genetics and attempt to evaluate the reporter's translation. In a second paper, students write popular articles on the basis of current primary sources.
In this commentary, Brian P. Lazzaro and David S. Schneider examine the topic of the Genetics of Immunity as explored in this month's issues of GENETICS and G3: Genes|Genomes|Genetics. These inaugural articles are part of a joint Genetics of Immunity collection (ongoing) in the GSA journals.
In this commentary, Michelle Arbeitman et al., examine the topic of the Genetics of Sex as explored in this month's issues of GENETICS and G3: Genes |Genomes |Genetics. These inaugural articles are part of a joint Genetics of Sex collection (ongoing) in the GSA journals.
There is strong consensus among educators that training in the ethical and social consequences of science is necessary for the development of students into the science professionals and well-rounded citizens needed in the future. However, this part of the curriculum is not a major focus of most science departments and it is not clear if, or how, students receive this training. To determine the current status of bioethics education of undergraduate biology students in the United States, we surveyed instructors of introductory genetics. We found that there was support for more ethics education both in the general curriculum and in the genetics classroom than is currently being given. Most instructors devote <5% of class time to ethical and social issues in their genetics courses. The majority feels that this is inadequate treatment of these topics and most cited lack of time as a major reason they were unable to give more attention to bioethics. We believe biology departments should take the responsibility to ensure that their students are receiving a balanced education. Undergraduate students should be adequately trained in ethics either within their science courses or in a specialized course elsewhere in the curriculum.
There is continued emphasis on increasing and improving genetics education for grades K–12, for medical professionals, and for the general public. Another critical audience is undergraduate students in introductory biology and genetics courses. To improve the learning of genetics, there is a need to first assess students' understanding of genetics concepts and their level of genetics literacy (i.e., genetics knowledge as it relates to, and affects, their lives). We have developed and evaluated a new instrument to assess the genetics literacy of undergraduate students taking introductory biology or genetics courses. The Genetics Literacy Assessment Instrument is a 31-item multiple-choice test that addresses 17 concepts identified as central to genetics literacy. The items were selected and modified on the basis of reviews by 25 genetics professionals and educators. The instrument underwent additional analysis in student focus groups and pilot testing. It has been evaluated using ∼400 students in eight introductory nonmajor biology and genetics courses. The content validity, discriminant validity, internal reliability, and stability of the instrument have been considered. This project directly enhances genetics education research by providing a valid and reliable instrument for assessing the genetics literacy of undergraduate students.
While many institutions use a version of the Ames test in the undergraduate genetics laboratory, students typically are not exposed to techniques or procedures beyond qualitative analysis of phenotypic reversion, thereby seriously limiting the scope of learning. We have extended the Ames test to include both quantitative analysis of reversion frequency and molecular analysis of revertant gene sequences. By giving students a role in designing their quantitative methods and analyses, students practice and apply quantitative skills. To help students connect classical and molecular genetic concepts and techniques, we report here procedures for characterizing the molecular lesions that confer a revertant phenotype. We suggest undertaking reversion of both missense and frameshift mutants to allow a more sophisticated molecular genetic analysis. These modifications and additions broaden the educational content of the traditional Ames test teaching laboratory, while simultaneously enhancing students' skills in experimental design, quantitative analysis, and data interpretation.
HIV has presented some of the greatest biomedical challenges in recent decades, and an understanding of how the virus behaves when it is in the human body is critical to addressing many of these challenges. One avenue through which to do this is the study of host genetics, which investigates the human genetic variants that modify the interactions between the HIV-1 virus and the human body. In my graduate work, I performed several different investigations that have furthered our understanding of the human genetic variants that either modulate the response to HIV-1 infection or play a role in the acquisition of an HIV-1 infection. This work took place at a time of transition in human genetics, and spanned both the era of genome-wide association studies as well as the beginning of the sequencing and rare variant eras.
The earliest HIV-1 host genetics findings were made through candidate gene studies, which reflected the state of human genetics research in the 1990s and early 2000s. The draft sequence of the human genome was released in 2001, and HIV host genetics, as well as human genetics in general, has changed considerably since then. Chapter 1 describes the basics of HIV-1 biology and the HIV-1 epidemic, as well as some crucial findings in HIV-1 host genetics. This chapter also gives a brief recent history of human genetics and describes some of the current challenges in the field.
Chapters 2 and 3 describe the identification of human genetic variants that associate with viral load set point. Chapter 2 describes a copy number variable region (CNV) in the KIR region of the genome that associates with a change in set point...