2,714 research outputs found
Genomic and phenotypic signatures of climate adaptation in an Anolis lizard
Integrated knowledge on phenotype, physiology and genomic adaptations is required to understand the effects of climate on evolution. The functional genomic basis of organismal adaptation to changes in the abiotic environment, its phenotypic consequences, and its possible convergence across vertebrates, are still understudied. In this study, we use a comparative approach to verify predicted gene functions for vertebrate thermal adaptation with observed functions underlying repeated genomic adaptations in response to elevation in the lizard Anolis cybotes. We establish a direct link between recurrently evolved phenotypes and functional genomics of altitude-related climate adaptation in three highland and lowland populations in the Dominican Republic. We show that across vertebrates, genes contained in this interactome are expressed within the brain and during development. These results are relevant to elucidate the effect of global climate change across vertebrates, and might aid in furthering insight into gene-environment relationships under disturbances to external homeostasis
The a-b Dermatoglyphic Ridge Breadth: An Indication of Developmental Significance
The purpose of this study was threefold: to present a-b ridge breadth data on various populations; to synthesize factors influencing the a-b ridge breadth; and to suggest areas of developmental significance which are important in the a-b ridge breadth determination. The a-b ridge breadths of ten sample groups representing Whites, Blacks, Amerindians, and Indians were collected and determined.
The mean a-b ridge breadths were determined for each of the ten sample populations. These a-b ridge breadths were compared with previously published a-b ridge breadth data. The primary procedure used in data analysis was analysis of variance (ANOVA). The groups were further divided to determine differences between sexes. An F ratio was calculated for both the males and the females to determine if there were significant differences in a-b ridge breadths.
The major findings of the research were that the differences in the mean a-b ridge breadths of the ten populations were significant. These results agreed with other studies of the a-b ridge breadths. It appears that there are differences between sexes when the a-b ridge breadths are compared. Ridge breadth was found to indicate significant group differences. Additionally, there was noted a geographic patterning of ridge counts and ridge distances. The a-b ridge count was found to be the one factor that varied between groups with consistency.
The developmental significance of the a-b ridge breadth was further highlighted by this study. It was previously known that the ridges of the palms are a record of the developing fetus. However, the exact nature of the record which is marked on the palms is unclear. It was perceived through this research endeavor that the actual width of the dermatoglyphic ridges in the a-b palmar area was the aspect of the a-b ridge breadth which illustrates developmental significance.
Systematic population comparisons were proposed in this study to help illustrate the aspects of palmar dermatoglyphics which are affected during development. More diverse sample populations need to be included in future studies. With more populations being examined for differences in palmar dermatoglyphics, the developmental significance of the a-b ridge breadth will be better understood
REPORT OF THE 2019 ICCAT WORKSHOP ON SWORDFISH BIOLOGY STUDIES FOR GROWTH, REPRODUCTION AND GENETICS
This report describes the June, 2019 ICCAT workshop on swordfish biology studies for growth,
reproduction and genetics, hosted by the Instituto Português do Mar e da Atmosfera, Olhão,
Portugal . The major objectives of the workshop were to 1) refine sampling and biological data
collection protocols, 2) develop protocols and start the sample processing and analysis, and 3)
plan for the project future steps. The biological sampling program was established by ICCAT’s
Swordfish Species Group in 2018, aiming to improve knowledge of the stock distribution, age and
gender of the catch, growth rate, age at maturation, maturation rate, spawning season and
location and diet. This work will contribute to the next major advance in the assessment of
swordfish status, by permitting the development of more spatially and biologically realistic
population models used in both Atlantic and Mediterranean populations assessments and within
the ICCAT Management Strategy Evaluation (MSE) for North Atlantic swordfish.En prens
General embryological information service.
v. 18, pt. 1 (1979
Genetics and Genetic Testing in Congenital Heart Disease
Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extra-cardiac anomalies has historically been used to identify patients with possible monogenic, chromosomal, or teratogenic CHD etiologies. These distinctions remain clinically relevant, particularly with regard to management; however, identification of genetic causes in patients with presumably non-syndromic CHD indicates that isolated CHD can also be genetic in origin. In recent years, the field of cardiac genetics has benefited from a growing understanding of the complex molecular mechanisms underpinning heart development, and the extreme genetic heterogeneity of CHD is increasingly appreciated. Progress has been largely supported by improvements in genetic testing technology derived from worldwide efforts to accurately and economically characterize the full breadth of human genomic variation. The last fifteen years in particular have witnessed emergence and refinement of novel cytogenetic and sequencing technologies, which have proven to be enormously effective tools for both diagnosis and identification of novel CHD-causing genes. These advancements have led to an increasing need for cardiac care providers to be well versed in the molecular genetic origins of CHD and to have working knowledge of the benefits and limitations of available testing methods. In this review, we provide a general overview of key morphologic, molecular, and signaling mechanisms relevant to heart development before summarizing overall progress in the molecular genetic analyses of CHDs and current recommendations for clinical application of genetic testing. Particular emphasis is placed on the utility and limitations of chromosomal microarray analyses (CMAs) and on emerging clinical roles for whole exome sequencing (WES) and other next-generation sequencing (NGS) technologies
An Insight Into the microRNA Profile of the Ectoparasitic Mite Varroa destructor (Acari: Varroidae), the Primary Vector of Honey Bee Deformed Wing Virus
The remarkably adaptive mite Varroa destructor is the most important honey bee ectoparasite. Varroa mites are competent vectors of deformed wing virus (DWV), and the Varroa-virus complex is a major determinant of annual honey bee colony mortality and collapse. MicroRNAs (miRNAs) are 22-24 nucleotide non-coding RNAs produced by all plants and animals and some viruses that influence biological processes through post-transcriptional regulation of gene expression. Knowledge of miRNAs and their function in mite biology remains limited. Here we constructed small RNA libraries from male and female V. destructor using Illumina’s small RNA-Seq platform. A total of 101,913,208 and 91,904,732 small RNA reads (\u3e18 nucleotides) from male and female mites were analyzed using the miRDeep2 algorithm. A conservative approach predicted 306 miRNAs, 18 of which were upregulated and 13 downregulated in female V. destructor compared with males. Quantitative real-time PCR validated the expression of selected differentially-expressed female Varroa miRNAs. This dataset provides a list of potential miRNA targets involved in regulating vital Varroa biological processes and paves the way for developing strategies to target Varroa and their viruses
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts. We identified 167 rare CNVs containing genes (frequency<0.0005 in our in-house cohort). Eight rare CNVs - in six patients - were de novo, including one CNV previously associated with oesophageal disease. (hg19 chr7:g.(143820444-143839360)-(159119486-159138663)del) 1.55% of isolated OA/TOF patients and 1.62% of patients with additional congenital anomalies had de novo CNVs. Furthermore, three (15q13.3, 16p13.3 and 22q11.2) susceptibility loci were identified based on their overlap with known OA/TOF-associated CNV syndromes and overlap with loci in published CNV association case-control studies in developmental delay. Our study suggests that CNVs contribute to OA/TOF development. In addition to the identified likely deleterious de novo CNVs, we detected 167 rare CNVs. Although not directly disease-causing, these CNVs might be of interest, as they can act as a modifier in a multiple hit model, or as the second hit in a recessive condition
REPORT OF THE 2021 ICCAT SWORDFISH BIOLOGY WORKSHOP (Online, 22-26 March 2021)
“The results, conclusions and recommendations contained in this Report only reflect what was
discussed by the Group of scientists that participated in the 2021 Swordfish Biology Workshop.
Therefore, these should be considered preliminary until the Swordfish Species Group and the
SCRS discuss and possibly adopts them at its annual Plenary meeting and the Commission revise
them at its Annual meeting. Accordingly, ICCAT reserves the right to comment, object and
endorse this Report, until it is finally adopted by the Commission.”En prens
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