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At least 793 records · Page 44Linked to original sources
PubMed1994

Fine genetic mapping defines the genetic order of Pax9, Tcf3a, and Acrodysplasia (Adp).

We present here the fine genetic mapping of the proximal part of mouse Chromosome (Chr) 12 between D12Mit54 and D12Mit4. This chromosomal region contains three loci, Pax9, Tcf3a, and Acrodysplasia (Adp), which seem to play an important role in pattern formation during mouse embryogenesis. The Adp mutation, which was created by transgene integration, causes skull, paw, and tail deformities. Pax9, which is expressed in the face, paws, and tail, once qualified as a possible candidate for the Adp locus. We analyzed 997 interspecific backcross progeny for recombination between the markers D12Mit54 and D12Mit4; we recovered 117 recombinants, which were further typed for Pax9, Tcf3a, Adp, D12Mit88, D12Nds1, D12Mit36, and D12Mit34. This study represents the first instance in which all the above loci have been included in a single analysis, thereby allowing unambiguous determination of the genetic order and distance between D12Mit54 and D12Mit4. From our results, we conclude that the Adp locus is distinct from either Pax9 or Tcf3a.

Animals↗
PubMed1990

Genetic variation for oviposition behavior in Drosophila melanogaster. I. Quantitative genetic analysis of insertion behavior.

The genetic basis of egg insertion behavior was analyzed in two Drosophila melanogaster strains (N and E strain), which were homozygous for the Slow allele of the alcohol dehydrogenase locus. The E strain had been selected for increased tolerance to ethanol. This study originated from the observation that nearly all of the eggs laid by females of the E strain were inserted, while in the control strain (N strain) which was kept on regular food, considerable variation for egg insertion occurred. Crosses between the E and the N strains were made, and quantitative genetic tests were performed. It was shown that the inheritance of egg insertion is polygenic, some of the genes are probably sex linked, and in-laying is partly dominant over on-laying. The heritability of the trait, derived from mother-daughter regression analysis, was .59 +/- .18. The repeatability was high. Bidirectional selection in the E strain was unsuccessful, but an asymmetrical response to selection was obtained in the N strain and in lines derived from crosses between the N and the E strains. Selection for in-laying was more successful than for on-laying. The realized heritability in the former lines was .35 +/- .10.

Alcohol Dehydrogenase↗
PubMed1990

Sex determination and the Y chromosome: the application of molecular genetic technique to behavioral genetics.

In mammals, the Y chromosome mediates both gonadogenesis and spermatogenesis. It is also known to influence such traits as histocompatibility, sperm head morphology, pubertal (but not adult) testosterone level, sexual behavior, and aggressive behavior. An immediate goal in my laboratory is the isolation and characterization of the Y chromosomal gene responsible for initiating differentiation of the primitive bipotential gonads to become testes: the Y chromosomal gonadogenesis gene. Function of this gene initiates a cascade of events involving large numbers of other genes scattered throughout the genome, but it is not responsible for initiating development of all of the male phenotype; where : is XXSxr karyotype males, bearing the Sxr region of the Y chromosome which includes this gene, are sterile. It is not known if this gene influences those behaviors known to be influenced by the Y chromosome. If animals with an XXSxr karyotype, transgenic for specific Y chromosomal genes, could be produced, questions such as this could be answered. The developmental biology of the testis, molecular genetics of the Sxr region of the Y chromosome, and isolation of the testis determination gene from DNA of XXSxr males are discussed. Also discussed are the production of transgenic mice and the prospects for using such animals as coisogenic strains, differing by precisely known DNA sequences, in behavior genetic analysis. Such animals could be used both to test for behavioral phenotype and to dissect out biochemical and neurological mechanisms responsible for the behavior.

Animals↗
PubMed2025

Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations.

The broader application of polygenic risk score (PRS) is hindered by the limited transferability of PRS developed in Europeans to non-European populations. While many statistical methods have been developed to improve the performance of PRS in non-European populations, most of them focused on discrete genetic ancestry clusters and did not consider admixed individuals. Admixed individuals pose a unique challenge for PRS calculation due to the complexity of local ancestry and cross-ancestry effect sizes. Here, we present a statistical method called SDPR_admix for calculating PRS in admixed individuals. SDPR_admix characterizes the joint distribution of the effect sizes of a genetic variant with two ancestries to be both zero, ancestry enriched, or shared with correlation. SDPR_admix outperformed other methods in simulations and improved the prediction of real traits in European-African admixed individuals in UK Biobank when trained on the Population Architecture using Genomics and Epidemiology (PAGE) dataset (N = 13,000). Deployment of SDPR_admix on All of Us (N = 52,000) further increased the prediction accuracy by approximately 5-fold on average compared with training on PAGE. This enhancement was achieved with manageable computational time and cost, demonstrating the feasibility of training PRS models on large-scale All of Us data. We provided several examples demonstrating that both ancestral-enriched and shared effects, as included in the SDPR_admix prediction model, are helpful for improving polygenic prediction in admixed populations. We also applied SDPR_admix to construct PRS for admixed Americans with mixture of European and Amerindigenous ancestries and showed that SDPR_admix overall outperformed other methods.

Humans↗
PubMed2006

Imaging genetics: perspectives from studies of genetically driven variation in serotonin function and corticolimbic affective processing.

Advances in molecular biology and neuroimaging have provided a unique opportunity to explore the relationships between genes, brain, and behavior. In this review, we will briefly outline the rationale for studying genetic effects on brain function with neuroimaging. We will then use studies of genetically driven variation in serotonin transporter function on corticolimbic structure and function to highlight the effectiveness of this strategy to delineate biological pathways and mechanisms by which individual differences in brain function emerge and potentially bias behavior and risk for psychiatric illness. In a series of studies, a relatively frequent regulatory variant of the human serotonin transporter gene (5-HTTLPR) has been demonstrated to bias the reactivity of the amygdala to salient environmental cues. Moreover, the 5-HTTLPR affects the development of a broader corticolimbic circuit and alters the functional integration of emotional information between the amygdala and medial prefrontal cortex. In turn, corticolimbic circuit function predicts individual differences in an experimental index of temperamental anxiety and, thus, might reflect a predictive biological marker of increased risk for mood disorders associated with the 5-HTTLPR.

Alleles↗
PubMed2002

Microsatellite markers for population genetic studies in Aedes aegypti (Diptera: Culicidae) from Côte d'Ivoire: evidence for a microgeographic genetic differentiation of mosquitoes from Bouaké.

In West Africa, Aedes aegypti (Diptera: Culicidae) (Linnaeus, C., 1762. Zweyter Theil, enhalt Beschreibungen veschiedener wichtiger Naturalien. In: Hasselquist, F. (Ed.), Reise nach Palastina in den Jahren von 1749 bis 1752, Rostock, Germany, pp. 267-606) represents the principal vector of yellow fever. This study reports the use of microsatellite markers to characterise various A. aegypti populations from Côte d'Ivoire according to a north-south transect, and to perform a temporal genetic survey of the mosquitoes. Three microsatellite loci were used to analyse individuals from four different places: Kabolo, Bouaké, and two different districts of Abidjan. We found that the four populations are genetically distinct except the two Abidjan populations. In the Bouaké population, the coexistence of two cryptic species, not morphologically distinguishable, seems to account for the extensive heterozygote deficiency observed. Comparison of mosquitoes from Bouaké 1 year apart indicated that a dramatic change occurred in the structuring of this population over time. Taken together these results indicate that microsatellite markers could be useful for identifying various populations of A. aegypti on a microgeographic scale and to assess for temporal variation within mosquito populations.

Aedes↗
PubMed2004

Gender, age, and season at immunization uniquely influence the genetic control of susceptibility to histopathological lesions and clinical signs of experimental allergic encephalomyelitis: implications for the genetics of multiple sclerosis.

Multiple sclerosis (MS), the principal inflammatory demyelinating disease of the central nervous system (CNS), is believed to have an immunopathological etiology arising from gene-environment interactions. In this study, we examined the effect of sex, age, and season at immunization on the susceptibility of (B10.S x SJL/J) F(2) intercross mice to experimental allergic encephalomyelitis (EAE), the foremost animal model of MS. Results of logistic regression analyses suggest that female mice were more likely to exhibit CNS lesions than male mice [odds ratio (OR) = 2.28 for brain lesions; OR = 2.37 for spinal cord (SC) lesions]. Although statistically significant associations were seen between brain and SC lesions and age at the time of injection or month of injection when examined separately; these associations disappeared when controlling for sex in multiple logistic regression analyses. These results suggest that the sex of the mouse is more important in influencing the development of brain and SC lesions than was either age or month of immunization. When examining clinical disease as the endpoint, the OR for the age at immunization is 1.04, indicating that the odds of being affected increase by 4% for each increasing week of age. When controlled for age, the OR for injection in the summer months (July through September) is 1.90, suggesting that the odds of being clinically affected are 90% greater for F(2) intercross animals injected in the summercompared to those injected in the winter to spring months (February through May). In contrast to CNS lesions, the age and season at immunization significantly and independently influenced susceptibility to clinical EAE and did so equally in both males and females. Linkage analysis to eae5, the H2-linked locus controlling susceptibility to clinical disease, was performed using 6- to 12- and >12-week-old cohorts as well as summer and winter/spring cohorts of F(2) mice. Significant linkage of clinical EAE to eae5 was observed with the 6- to 12-week-old and summer populations. In contrast, linkage of clinical EAE to eae5 was not detected with the >12-week-old and winter/spring populations. These results indicate that age and seasonal effects are capable of overriding eae5-dependent genetic control of susceptibility to clinical EAE and have significant implications for the genetics of MS.

Age Factors↗
PubMed2006

[Genetics and orthopedics: genetic implications of congenital limb abnormalities].

Limb malformations are frequent. These malformations are isolated or associated with anomalies of other developmental fields and accurate diagnostic is essential for prognosis evaluation, treatment and genetic counseling. Animal embryology and molecular biology techniques, have given us a better understanding of the processes of growth and patterning of the limb buds. The key genes that are involved in these processes have been identified and their interactions recognized. Human genetics has been able to identify, or at least localize, several genes implicated in limb development. We here review the present knowledge on these genes and their mutations responsible for limb anomalies.

Extremities↗
PubMed2001

Use of a genetic marker to examine genetic interaction among subpopulations of pink salmon (Oncorhynchus gorbuscha).

In 1979 and 1981, a genetic marker was bred into one of the five identifiable subpopulations of pink salmon [Oncorhynchus gorbuscha (Walbaum)] in the Auke Lake drainage in Southeast Alaska. As a result of the marking effort, the frequencies of two malate dehydrogenase (MDH-B1, 2*) alleles were changed in the marked subpopulation, but not in other subpopulations that spawn at different times or places. Between 1983 and 1989, the marker allele frequencies were monitored in many of these subpopulations and in early- and late-run pink salmon spawning in nearby Waydelich Creek, located approximately 1 km away. Changes in allele frequencies at MDH-B1, 2*, used to obtain direct estimates of average migration rates (m) from the marked to the unmarked subpopulations, revealed little or no introgression into early subpopulations or into nearby Waydelich Creek. Moreover, spatially distinct late-run Auke Creek subpopulations were not immediately overrun by the more abundant marked subpopulation. These observations suggest that genetic isolation exists between temporally distinct spawning runs and that small temporal and spatial (or ecological) differences contribute to population structure. These observations should be considered in taking actions that affect conservation and harvest management or extensive culture of salmonids.

Alleles↗
PubMed2003

Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres.

Predictive testing for hereditary non-polyposis colorectal cancer (HNPCC) is typically offered within an extended genetic counselling protocol, originally developed in the context of Huntington's Disease. We conducted a questionnaire survey of 20 UK regional genetics centres to obtain evidence regarding current approaches to HNPCC pre-test counselling. Centres were asked to describe the structure and content of pre-test counselling and their views on shortening the protocol. Sixteen centres responded to the survey. Four centres were considering shortening the protocol or had already done so. The remaining centres followed an extended protocol of two sessions separated by a 1-month period for reflection, although two centres conceded that the protocol had been reduced in certain cases. Different centres used different terminology to describe the content of pre-test counselling. Although content areas relating to education or impact of test results were covered more frequently than those relating to reflection, there was a marked tendency to consider all three areas as essential and to use both educational and reflective counselling, even in those centres that favoured a shortened protocol. This apparent dilemma highlights both the practical difficulty of how to shorten HNPCC pre-test counselling protocols and the need for controlled trials of different approaches.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed1994

A developmental-genetic model of alcoholism: implications for genetic research.

The research for biological-genetic markers of alcoholism is discussed in the context of a multifactorial, heterogeneous, developmental model of the disease. It is suggested that the strategies used in both linkage and association studies require modification to accommodate this more complex model. It is also suggested that several extant associations of genetic markers with alcoholism represent true secondary interactive phenomena that alter the outcome of primary alcoholism genotypes at the phenotype level.

Alcoholism↗
PubMed2005

History of genetic disease: the molecular genetics of Huntington disease - a history.

The Huntington disease gene was mapped to human chromosome 4p in 1983 and 10 years later the pathogenic mutation was identified as a CAG-repeat expansion. Our current understanding of the molecular pathogenesis of Huntington disease could never have been achieved without the recent progress in the field of molecular genetics. We are now equipped with powerful genetic models that continue to uncover new aspects of the pathogenesis of Huntington disease and will be instrumental for the development of therapeutic approaches for this disease.

Animals↗
PubMed2005

Genetic testing: who should do the testing and what is the role of genetic testing in the setting of celiac disease?

Celiac disease is a remarkable and common immune-mediated disorder determined by both the presence of characteristic HLA alleles (DQ2 and DQ8) and one of the best characterized environmental factors (gliadin) for any common autoimmune disease. The discovery of transglutaminase autoantibodies and the development of assays for these antibodies has allowed the identification of a large number of asymptomatic individuals with autoimmunity and intestinal biopsy evidence of celiac lesions. Further understanding of the sequelae of asymptomatic celiac disease, and the interaction between genetic susceptibility and environmental factors, are likely to alter fundamentally both genetic screening for celiac disease and its therapy.

Adult↗
PubMed1985

Genetic analysis of field trials of sex-linked translocation strains for genetic control of the Australian sheep blowfly Lucilia cuprina (Wiedemann).

The results of progeny tests of males and females captured during two field trials of sex-linked translocation strains for genetic control of L. cuprina are presented. Males released as mature larvae survived to adulthood and mated with field females. However, the levels of genetic death introduced into the population were insufficient to suppress the native population. This was due partly to seasonal ineffectiveness of the release method, and partly to poor performance of the released males. On average, the mating competitiveness of the released males was only one-third that of field males, whereas their field-reared, translocation-bearing sons were fully competitive with native males.

Animals↗
PubMed2004

The Longue Durée of genetic ancestry: multiple genetic marker systems and Celtic origins on the Atlantic facade of Europe.

Celtic languages are now spoken only on the Atlantic facade of Europe, mainly in Britain and Ireland, but were spoken more widely in western and central Europe until the collapse of the Roman Empire in the first millennium a.d. It has been common to couple archaeological evidence for the expansion of Iron Age elites in central Europe with the dispersal of these languages and of Celtic ethnicity and to posit a central European "homeland" for the Celtic peoples. More recently, however, archaeologists have questioned this "migrationist" view of Celtic ethnogenesis. The proposition of a central European ancestry should be testable by examining the distribution of genetic markers; however, although Y-chromosome patterns in Atlantic Europe show little evidence of central European influence, there has hitherto been insufficient data to confirm this by use of mitochondrial DNA (mtDNA). Here, we present both new mtDNA data from Ireland and a novel analysis of a greatly enlarged European mtDNA database. We show that mtDNA lineages, when analyzed in sufficiently large numbers, display patterns significantly similar to a large fraction of both Y-chromosome and autosomal variation. These multiple genetic marker systems indicate a shared ancestry throughout the Atlantic zone, from northern Iberia to western Scandinavia, that dates back to the end of the last Ice Age.

Base Sequence↗
PubMed1982

Protein polymorphisms, segregation in genetic crosses and genetic distances among fishes of the genus Xiphophorus (Poeciliidae).

The products of 49 protein-coding loci were examined by starch gel electrophoresis for populational variation in six species of Xiphophorus fishes and/or segregation in intra-and interspecific backcross and intercross hybrids. Electrophoretic variation was observed for 29 of the 35 locus products in a survey of 42 population samples. The highest frequency of polymorphic loci observed in noninbred populations was 0.143. After ten or more generations of inbreeding, all loci studied were monomorphic. Inbred strains generally exhibited the commonest electrophoretic alleles of the population from which they were derived. An assessment of genetic distances among Xiphophorus populations reflected classical systematic relationships and suggested incipient subspeciation between X. maculatus from different drainages as well as several species groups. Thirty-three loci were analyzed with respect to segregation in hybrids. The goodness of fit of segregations to Mendelian expectations at all loci analyzed (except loci in linkage group I) is interpreted as evidence for high genetic compatibility of the genomes of Xiphophorus species. It is anticipated that these data will result in a rapid expansion of the assignment of protein-coding loci to linkage groups in these lower vertebrate species.

Alleles↗
PubMed1996

Neutral genetic markers and conservation genetics: simulated germplasm collections.

This study examines the use of neutral genetic markers to guide sampling from a large germplasm collection with the objective of establishing from it a smaller, but genetically representative sample. We simulated evolutionary change and germplasm sampling in a subdivided population of a diploid hermaphrodite annual plant to create an initially large collection. Several strategies of sampling from this collection were then compared. Our results show that a strategy based on information obtained from marker genes led to retention of the maximum number of neutral and nonneutral alleles in the smaller sample. This occurred when demes were composed of self-fertilizing individuals or when no migration occurred among demes, but not when demes of an outcrossing population were connected by high levels of migration.

Algorithms↗
PubMed1998

Genetics of adaptive radiation in Hawaiian and Cook Islands species of Tetramolopium (Asteraceae). II. Genetic linkage map and its implications for interspecific breeding barriers.

In a study of the genetic mechanisms associated with adaptive radiation in Hawaiian Tetramolopium, a genetic linkage map was constructed in an interspecific cross. A total of 125 RFLP and RAPD markers were mapped into 117 different loci on nine linkage groups for a map length of 665.7 cM. Segregation distortion occurred in 49% of the mapped probes, located primarily in four linkage groups. High percentages of one parental species genotype (Tetramolopium rockii) were recovered in three of these blocks and the second parental species (T. humile) in the remaining block. The high degree of distorted segregation suggests the buildup of internal crossing barriers, even though island plant species are typically characterized as highly cross compatible with few to no internal crossing barriers. This work and a review of previous crossing studies in island plants show that internal (postmating) crossing barriers do exist. The weak crossing barriers have likely been overlooked because the main focus has been on diversification and speciation through adaptation to extremely diverse environments.

Adaptation, Biological↗