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PubMed1977

Primary and secondary disturbances in trace element metabolism connected with genetic metabolic disorders.

Several primarily inherited disturbances of minerals and trace elements have been discovered within the last 20 years. Secondary disturbances of selenium and zinc induced by dietetic treatment of inborn errors of metabolism and by parenteral nutrition also came to our knowledge recently. Two main types of chronic or primary hypomagnesaemia are known which are caused either by impaired intestinal absorption or by false magnesium handling by the kidneys. In acrodermatitis enteropathica, an autosomal-recessive inherited disease leading to characteristic skin lesions, alopecia and dystrophy, low zinc concentrations of serum, urine and hair are measured. The intestinal absorption of zinc is reduced. In copper metabolism two inherited diseases are known with low serum and usually caerulosplasmin concentrations. In Menkes' steely hair syndrome (trichlpoliodystrophy) an intestinal net malabsorption of copper exists, whereas in Wilson's disease the copper contents of several organs are increased.

Adult↗
PubMed1985

Iris cysts in three generations conveyed by means of a genetic process connected with sex.

The authors report a case of pigmented cysts of the iris, observed in female subjects of the same family and of three generations. They hypothesize that it may be due to a hereditary alteration connected to sex, and believe it should be considered as a mesodermal alteration, occurring during embryonic development. The treatment has been para-surgical by means of a Nd-YAG laser, operating in a free-running mode, with impulses directed onto the cysts.

Adult↗
PubMed2005

Genetic evidence for the Mongolian ancestry of Kalmyks.

The Kalmyks are an ethnic group along the lower Volga River in Russia who are thought to have migrated there from Mongolia about 300 years ago. To investigate their origins, we studied mtDNA and Y-chromosome variation in 99 Kalmyks. Both mtDNA HV1 sequences and Y-chromosome SNP haplogroups indicate a close relationship of Kalmyks with Mongolians. In addition, genetic diversity for both mtDNA and the Y chromosome are comparable in Kalmyks, Mongolians, and other Central Asian groups, indicating that the Kalmyk migration was not associated with a substantial bottleneck. The so-called "Genghis Khan" Y-chromosome short tandem repeat (STR) haplotype was found in high frequency (31.3%) among Kalmyks, further supporting a strong genetic connection between Kalmyks and Mongolians. Genetic analyses of even recent, relatively well-documented migrations such as of the Kalmyks can therefore lead to new insights concerning such migrations.

Asian People↗
PubMed2026

Larval Genomics as a Viable, Fisheries-Independent Tool for Investigating Population Structure in Tropical Pacific Tunas.

Understanding how dispersal, life history, and environmental variability shape genetic connectivity in the open ocean remains a central challenge in evolutionary biology. Highly migratory marine predators like tunas have traditionally been considered genetically homogeneous across ocean basins, yet emerging genomic evidence suggests that cryptic population structure can persist even in species with high gene flow and large effective population sizes. We used 2bRAD sequencing of 348 larval and subadult skipjack (Katsuwonus pelamis), yellowfin (Thunnus albacares), and bigeye tuna (T. obesus) collected from the central Pacific across 7 years of sampling to examine species boundaries, population genetic information, genetic structure, and connectivity. Larval sampling revealed consistent spawning by all three species and enabled unbiased detection of genetic patterns prior to recruitment bottlenecks. We found strong divergence amongst species, no evidence of structuring within skipjack or bigeye, and a divergent yellowfin population detected in 2 consecutive sampling years north of American Samoa. Comparisons between larvae and subadults suggest that sampling early life history stages can be a valuable tool for assessing population genetic information before recruitment bottlenecks, selective harvest by fisheries, adult dispersal, and selective pressures acting on adult populations, thereby contributing novel insights to the research and effective management of these species. These results highlight how larval genomics can complement traditional population genomic studies of adult tunas and reveal fine-scale structure in highly vagile species, providing new perspectives on connectivity in the open ocean.

Animals↗
PubMed1990

Prostate cancer occurring in identical twins: a case report.

Prostatic cancer, which is an age-associated and androgen-dependent cancer, is the most common malignancy in males in the United States. Although the etiologic factors in prostate cancer are not clear, increased male sexual activity on a hormonal basis, a viral-venereal connection, and air pollution have been hypothesized. Genetic factors are suggested by racial variation and by familial incidence of prostate cancer; however, with family studies alone, it is not possible to decide if it is genetically determined or if it is due to a greater than average similarity in environment. For cancer in general, the study of concordance rates among populations of twins has failed to establish a precise role for inheritance, but more detailed study of individual types of tumors in twins may reveal a genetic connection. The following report describes the second recorded monozygotic twin set concordant for prostate cancer.

Adenocarcinoma↗
PubMed2004

Integrating linkage and radiation hybrid mapping data for bovine chromosome 15.

BACKGROUND: Bovine chromosome (BTA) 15 contains a quantitative trait loci (QTL) for meat tenderness, as well as several breaks in synteny with human chromosome (HSA) 11. Both linkage and radiation hybrid (RH) maps of BTA 15 are available, but the linkage map lacks gene-specific markers needed to identify genes underlying the QTL, and the gene-rich RH map lacks associations with marker genotypes needed to define the QTL. Integrating the maps will provide information to further explore the QTL as well as refine the comparative map between BTA 15 and HSA 11. A recently developed approach to integrating linkage and RH maps uses both linkage and RH data to resolve a consensus marker order, rather than aligning independently constructed maps. Automated map construction procedures employing this maximum-likelihood approach were developed to integrate BTA RH and linkage data, and establish comparative positions of BTA 15 markers with HSA 11 homologs. RESULTS: The integrated BTA 15 map represents 145 markers; 42 shared by both data sets, 36 unique to the linkage data and 67 unique to RH data. Sequence alignment yielded comparative positions for 77 bovine markers with homologs on HSA 11. The map covers approximately 32% of HSA 11 sequence in five segments of conserved synteny, another 15% of HSA 11 is shared with BTA 29. Bovine and human order are consistent in portions of the syntenic segments, but some rearrangement is apparent. Comparative positions of gene markers near the meat tenderness QTL indicate the region includes separate segments of HSA 11. The two microsatellite markers flanking the QTL peak are between defined syntenic segments. CONCLUSIONS: Combining data to construct an integrated map not only consolidates information from different sources onto a single map, but information contributed from each data set increases the accuracy of the map. Comparison of bovine maps with well annotated human sequence can provide useful information about genes near mapped bovine markers, but bovine gene order may be different than human. Procedures to connect genetic and physical mapping data, build integrated maps for livestock species, and connect those maps to more fully annotated sequence can be automated, facilitating the maintenance of up-to-date maps, and providing a valuable tool to further explore genetic variation in livestock.

Animals↗
PubMed2004

Population Graphs: the graph theoretic shape of genetic structure.

Patterns of intraspecific genetic variation result from interactions among both historical and contemporary evolutionary processes. Traditionally, population geneticists have used methods such as F-statistics, pairwise isolation by distance models, spatial autocorrelation and coalescent models to analyse this variation and to gain insight about causal evolutionary processes. Here we introduce a novel approach (Population Graphs) that focuses on the analysis of marker-based population genetic data within a graph theoretic framework. This method can be used to estimate traditional population genetic summary statistics, but its primary focus is on characterizing the complex topology resulting from historical and contemporary genetic interactions among populations. We introduce the application of Population Graphs by examining the range-wide population genetic structure of a Sonoran Desert cactus (Lophocereus schottii). With this data set, we evaluate hypotheses regarding historical vicariance, isolation by distance, population-level assignment and the importance of specific populations to species-wide genetic connectivity. We close by discussing the applicability of Population Graphs for addressing a wide range of population genetic and phylogeographical problems.

Cactaceae↗
PubMed1998

Molecular analysis of pcc1, a gene that leads to A-regulated sexual morphogenesis in Coprinus cinereus.

A homokaryotic strain (5337) in our culture stock of Coprinus cinereus produced fertile fruit bodies after prolonged culture. Microscopic examination revealed that hyphae dedifferentiated from the tissues of one of the fruit bodies, as well as all basidiospore derivatives from the fruit body, exhibited pseudoclamps, whereas vegetative hyphae of 5337, from which the fruit body developed, had no clamp connections. Genetic analysis showed that the formation of pseudoclamps results from a recessive mutation in a gene designated pcc1 (pseudoclamp connection formation), which is distinct from the A and B mating type genes. Cloning and sequencing of the pcc1 gene and cDNA identified an ORF of 1683 bp interrupted by one intron. Database searches revealed that pcc1 encodes an SRY-type HMG protein. The HMG box shared 44, 41, and 29% sequence identities (>80 amino acids) to those of FPR1 of Podospora anserina, MAT-Mc of Schizosaccharomyces pombe, and prf1 of Ustilago maydis, respectively. Northern analysis revealed that the level of pcc1 expression is higher in the dikaryon, in homokaryons in which the A and B mating type developmental sequences are individually activated, than in the homokaryon in which these sequences are not active. Sequencing of the pcc1-1 mutant allele revealed that the mutant carries a nonsense mutation at serine 211, a residue located between the HMG box and the C terminus. Based on these results, possible roles of the pcc1 gene in the sexual development of homobasidiomycetes are discussed.

Alleles↗
PubMed2005

Convergent evolution and divergent selection: lizards at the White Sands ecotone.

Ecological transition zones, where organismal phenotypes result from a delicate balance between selection and migration, highlight the interplay of local adaptation and gene flow. Here, I study the response of an entire species assemblage to natural selection across a common ecotone. Three lizard species, distributed along a dramatic environmental gradient in substrate color, display convergent adaptation of blanched coloration on the gypsum dunes of White Sands National Monument. I investigate the role of gene flow in modulating phenotypic response to selection by quantifying color variation and genetic variation across the ecotone. I find species differences in degree of background matching and in genetic connectivity of populations across the ecotone. Differences among species in phenotypic response to selection scale precisely to levels of genetic isolation. Species with higher levels of gene flow across the ecotone exhibit less dramatic responses to selection. Results also reveal a strong signal of ecologically mediated divergence for White Sands lizards. For all species, phenotypic variation is better explained by habitat similarity than genetic similarity. Convergent evolution of blanched coloration at White Sands clearly reflects the action of strong divergent selection; however, adaptive response appears to be modulated by gene flow and demographic history and can be predicted by divergence-with-gene-flow models.

Animals↗
PubMed2025

What Should a Clinical Cardiologist Know About Cardiogenetics?

Inherited cardiovascular diseases are becoming increasingly prominent in clinical practice, significantly impacting diagnosis, risk assessment, and family screening strategies. Progress in genetic testing has broadened access to cardiogenetic evaluations, while also presenting new challenges in interpreting variants and incorporating findings into clinical care. This narrative review explores 20 essential questions that clinical cardiologists may face when dealing with suspected or confirmed inherited cardiac conditions. Organized as a practical, question-driven guide, it outlines when to consider a genetic cause, how to choose and interpret genetic tests, and how to manage patients regardless of their genetic test results. The review emphasizes variant classification based on American College of Medical Genetics and Genomics criteria, the importance of clinical context in interpreting uncertain results, and the principles behind family cascade screening. Particular attention is given to the management of relatives who carry a genetic variant but show no symptoms, and to the current limitations of genetic testing technologies (eg, performance). Ethical considerations, including the appropriate timing of testing in children minors, are also discussed. By connecting genetic insights with clinical cardiology, this review aims to support practical, informed decision making and promote effective collaboration with cardiogenetic specialists.

Humans↗
PubMed1996

Lay understanding of genetics: a test of a hypothesis.

There have been growing calls for more education in genetics for the public and in schools. However, studies of the public, school children, and those who have received genetic counselling show that understanding of scientific genetics is very limited. A hypothesis to explain this limited understanding is proposed and tested. It is argued that there is a widespread lay knowledge of inheritance which conflicts in a number of aspects with scientific explanations and which impedes the assimilation of the latter. It is suggested that this lay knowledge is derived from concepts of the social relationships of kinship. Concepts of kinship ties are sustained by everyday social activities and relationships which may make them resistant to change. A prediction which follows from the hypothesis that the lay understanding of genetics is derived from concepts of family and kinship relationships is that closeness in genetic terms will be determined by the closeness of the family ties of social relationship and social obligation. While the proportion of genes shared with parents, children, and sibs is, on average, the same, kin relationships and obligations are much stronger between parents and children than between sibs. The hypothesis was tested in a questionnaire study of two samples of adult women (n = 64 and n = 113) and one of social science students (n = 73). In all three groups a higher proportion of subjects gave the correct response for the proportion of shared genes with a father and child than with a sister, uncle, or grandmother. In the cases of sisters and uncle (and grandmother), there was a consistent tendency to underestimate the degree of genetic connection as predicted by the hypothesis. Answers to other questions are consistent with the hypothesis. The fundamental implications of the hypothesis for genetic education in the clinic and classroom are outlined.

Adult↗
PubMed2026

Assessment of Genetic Diversity and Population Structure on Azadirachta indica A. Juss. in an Urban Metropolitan: Ahmedabad, India.

Azadirachta indica (A. indica) A. Juss., commonly known as Neem, is a valuable multipurpose tree with profound medicinal properties and socioeconomic importance, widely recognized since ancient Ayurvedic times. Despite its prominence, knowledge about its genetic diversity within the metropolitan area of Ahmedabad is limited. This study marks the first in-depth exploration of the genetic diversity and population structure of A. indica in Ahmedabad. The authenticity of the species was validated through DNA barcoding, and a Geographical Information System (GIS) was used to collect the samples. A total of 35 A. indica accessions were analyzed using five Inter Simple Sequence Repeat (ISSR) primers. Genetic diversity and population structure were evaluated using Inter Simple Sequence Repeat (ISSR) markers through polymorphism assessment, clustering, ordination, and Bayesian population structure analyses. ISSRs revealed a high level of polymorphism (75.66%), indicating substantial genetic variability among accessions. An analysis of genetic diversity indices revealed low to moderate diversity (Hs = 0.14, Ht = 0.217, I = 0.217). Analysis of Molecular Variance (AMOVA) analysis depicted 81% variation within the population and 19% among the population. Low to moderate genetic differentiation (Gst = 0.319) and moderate gene flow (Nm = 1.06) indicated that urban development has not hindered gene flow among populations. Mantel's test revealed a weak but significant correlation between genetic and geographic distances, suggesting limited isolation by distance. The estimated ΔK using STRUCTURE exhibited two subpopulations, representing two gene pools for A. indica accessions (K = 2). Collectively, these patterns indicate that urbanization has not severely disrupted genetic connectivity in A. indica, reflecting its resilience and adaptive potential in a metropolitan environment. These findings provide pivotal knowledge for further understanding the genetic diversity and population structure of A. indica in one of the fastest-growing cities in India, which can be utilized for new breeding programmes, sustainable development and future conservation strategies around the globe.

India↗
PubMed2005

The 'geneticisation' of heart disease: a network analysis of the production of new genetic knowledge.

Genetic science is making ever-expanding claims about the (mal)functioning of the body. The 'geneticisation' of health and medicine is extending from rare single gene conditions to more common multi-factorial disease, such as heart disease. The dominant behavioural and socio-spatial explanations of heart disease are now being challenged by genetic claims of deterministic biological causes. This paper builds an account of the transformation of heart disease in the new genetics era, by applying actor network theory (ANT) to the production of genetic knowledge of one aspect of heart disease-hypertension-within a medical genetics laboratory in Glasgow, Scotland. Using this approach, the paper shows that there is no straightforward geneticisation of heart disease. Instead, there is a contested, complex and uncertain understanding of heart disease as genetic, a product of the many people, technologies, natural elements and spaces involved in the network of genetic science knowledge making. The paper concludes that a 'critical' ANT could be developed that acknowledges the inherent unevenness of the network, and connects genetic and socio-spatial explanations of heart disease.

Causality↗
PubMed1998

Molecular population genetics of the red kangaroo (Macropus rufus): mtDNA variation.

The genetic population structure of a large, wide-ranging marsupial, the red kangaroo (Macropus rufus) was assessed using sequence and haplotype frequency data of mitochondrial DNA (mtDNA) from locations across the species range in Australia. Results from sequence data revealed extensive haplotype diversity within the red kangaroo (32/34 sequences were unique). Sequence diversity was distributed within rather than between geographical regions across the species range. Genetic connectivity across the range of the species has therefore been maintained over the long term. On a smaller within-region scale, significant genetic structuring was evident from heterogeneity of haplotype frequencies amongst sampling sites. The geographical scale of panmictic populations differed across the continent with more restricted genetic populations occurring in areas with greater topographic and habitat complexity. We propose that these differences in area of genetic populations are the result of population responses to limiting ecological factors during drought.

Animals↗
PubMed1996

Issues in genetic testing for susceptibility to alcoholism: lessons from Alzheimer's disease and Huntington's disease.

Evidence from family, twin, and adoption studies suggest a heritable basis for alcoholism. However, alcoholism is likely to be genetically heterogeneous, and any genetic connection is likely to be in the form of genes conferring an increased risk or susceptibility. In this study, we present the evidence for a genetic component for alcoholism, and examine the precedent for genetic testing and screening for genetic susceptibility using Huntington's disease and Alzheimer's disease as examples. Finally, we discuss the preparations that need to be made before taking any findings about the genetics of alcoholism from the research laboratory into the clinic.

Adult↗
PubMed2002

Anticipation in migraine with affective psychosis.

Anticipation is the term given to the apparent occurrence of an inherited disorder at a progressively earlier age of onset in successive generations. A family of a mother and two children, a 17-year-old girl and a 13-year-old boy, all experienced migraine with affective psychosis. There is a strong genetic predisposition to the psychiatric disorder of affective psychosis along with a dominant pattern of migraine in the family, which suggests a genetic connection between migraine and affective psychosis.

Adolescent↗