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At least 19 recordsLinked to original sources
PubMed1978

The use and limitations of chiasma scoring with reference to human genetic mapping.

Human chiasma data are summarized, and some preliminary new observations in fetal oocytes are presented. Male chiasma data may give reliable estimates of genetic lengths, both for individual chromosome arms and for the total autosomal complement. Female data are as yet less accurate and give information according to chromosome group only. Movement of chiasmata before they can be reliably scored is unlikely. In both sexes, chiasmata are seen to be clustered along the length of the chromosomes, which may reflect crossingover interference and a tendency for crossingover to more often take place in certain chromosome segments; there are some indications of sex differences in these preferences.

Chromatids↗
PubMed2025

Gut fungi are associated with human genetic variation and disease risk.

Human genetic determinants of the gut mycobiome remain uninvestigated despite decades of research highlighting tripartite relationships between gut bacteria, genetic background, and disease. Here, we present the first genome-wide association study on the number and types of human genetic loci influencing gut fungi relative abundance. We detect 148 fungi-associated variants (FAVs) across 7 chromosomes that statistically associate with 9 fungal taxa. Of these FAVs, several occur in the protein-coding genes PTPRC, ANAPC10, NAV2, and CDH13. Additional FAVs link to tissue-specific gene expression as fungi-associated expression quantitative trait loci. Notably, the relative abundance of gut yeast Kazachstania associates with genetic variation in CDH13 encoding T-cadherin, a protein linked to cardiovascular disease. Kazachstania forms a causal relationship with cardiovascular disease risk in a mendelian two-sample randomization analysis. These findings establish previously unrecognized connections between human genetics, gut fungi, and chronic disease, broadening the paradigm of human-microbe interactions in the gut to the mycobiome.

Humans↗
PubMed1979

A short history of human genetics in the USA.

The practicing physician discovered human genetics primarily as a result of two events. The use of the atomic bomb generated a vast amount of attention because of the fear of genetic hazards of radiation. Next, the discovery that the Down syndrome resulted from the presence of an extra chromosome finally focused the vision of the medical profession on human genetics as an area of importance in disease. It was also necessary that the erroneous fatalism about the impossibility of treating genetic diseases had to diminish before medicine would find human genetics attractive for research in therapeutic techniques. All of these things have come to pass and human genetics cannot help but enjoy a distinguished and extremely useful future.

Eugenics↗
PubMed2025

The potential impacts of human genetics on virus emergence.

Human monogenic traits can confer resistance to viral infection in exposed individuals or predisposition to severe disease in infected individuals. Enhanced susceptibility can be driven directly by mutations in genes essential for control of the virus or indirectly via the production of autoantibodies against components of host defense. While the impact of viruses on individuals carrying these genotypes permitted their identification and has been amply studied, little is known about the impact of these human genotypes on the natural history of viruses, including not only persisting but also emerging viruses. We envisage several scenarios, including the possibility that genetically susceptible individuals serve as patient zeros, superspreaders, or mutation incubators, or that genetically resistant individuals even permit the selection of new viral mutants. Viruses are continually shared between individuals and even host species, where they can benefit from adaption to new environments. Current human viruses, as well as novel viruses from animal reservoirs, will continue to threaten the human population. Improvements in the scale of human genomic sequencing and analysis will permit testing hypotheses about the impact of human genetics on the origin and trajectory of viral infections, including future pandemics, which may ultimately help to prevent or curtail impending outbreaks.

Humans↗
PubMed2026

Research on the genome of microorganisms: ethical considerations and recommendations regarding the incidental bystander sequencing of human genetic material.

In genomic research primarily targeting microorganisms (or pathogens), a substantial risk exists that the presence of human genetic bycatch is not sufficiently recognised, and that the potential harm of unwarranted analysis, access, or sharing of human genetic bystander data is also insufficiently acknowledged or mitigated. In this Personal View, we contend that mandatory risk mitigation measures are necessary, more so in view of the likely increase of sharing of materials and pathogen sequence information under the WHO Pandemic Agreement and the related Pathogen Access and Benefit Sharing framework. Based on a joint reflection of the Institutional Review Board and individual researchers at the Institute of Tropical Medicine in Antwerp, Belgium, we propose a four-step approach to mitigate such risks: prevention or early removal of human genetic sequences, secure storage of samples and data, adaptation of informed consent, and targeted ethics review. This approach should contribute to maintaining ethical integrity, protect the rights of individuals and communities, and bolster public trust in the expanding use of untargeted sequencing in global health research.

Humans↗
PubMed1978

Medical and human genetics 1977: trends and directions.

Our field is in a rapid state of evolution. The broader concerns of human genetics not of immediate medical interest such as behavioral genetics are often investigated by persons not trained or identified as human geneticists. Both medical genetics and human genetics in general have prospered when various biologic techniques have been applied to genetic concepts. A search for novel biologic methods may provide new insights and may bridge the gulf between Mendelian and biometric approaches in studies of behavior and of common diseases. Medical geneticists need to broaden their fields of interest to encompass other fields than those of pediatric interest alone. We need to attract more basic scientists. Our field is evolving from a largely research oriented science to a service-oriented specialty. This logical development is a sign of increasing maturity and makes available to the public the results of our research. The resulting stresses and strains need careful watching to prevent their slowing the momentum of our science which can contribute continued insights into the many problems of behavior, health, and disease.

Genetic Diseases, Inborn↗
PubMed1979

Variability of bacterial gene-directed enzyme production in human genetically deficient cells.

Human beta-galactosidase-deficient skin fibroblasts from a patient with generalized gangliosidosis (GMI-gangliosidosis type I) were treated with phage lambda plac DNA, coding for Escherichia coli beta-galactosidase (beta-D-galactoside galactohydrolase, EC.3.2.1.23). New beta-galactosidase activity detected in cell extracts of phage DNA-treated GMI-gangliosidosis fibroblasts continued to vary considerably from one experiment to another. It behaved like the E. coli z-gene product upon immunochemical and physicochemical investigation. In some experiments the antigenic behavior of resultant beta-galactoside activity in lambda plac DNA-treated cells resembled that of mutant E. coli beta-galactosidase. Among the factors and variables that may be responsible for the variation in the results obtained here and elsewhere, low physical binding between prokaryotic mRNA sequences and fibroblast ribosomal RNA could play a part connected with effective translation. This hypothesis is discussed under the aspect of a comparison of the ribosomal binding site of lac z mRNA with the 3'-terminus of the eukaryotic 18s ribosomal RNA, which shows limited possibilities for base-pairing interactions. More extensive possibilities for forming Watson-Crick base pairs between their initiation site and the eukaryotic ribosomal binding site exist for other prokaryotic messengers, such as those of Q beta-replicase, f 1-coat protein, or UDPG-4-epimerase.

Cells, Cultured↗
PubMed1977

Assumptions for different ascertainment models in human genetics.

Some aspects of sampling family data in human genetics are discussed. Two well-investigated ascertainment models, the complete ascertainment model and the single ascertainment model, which have been derived using restrictive sampling assumptions, are shown to hold under four more general sets of assumptions.

Genetic Diseases, Inborn↗
PubMed2025

Computational modeling of human genetic variants in mice.

Mouse models represent a powerful platform to study genes and variants associated with human diseases. While genome editing technologies have increased the rate and precision of model development, predicting and installing specific types of mutations in mice that mimic the native human genetic context is complicated. Computational tools can identify and align orthologous wild-type genetic sequences from different species; however, predictive modeling and engineering of equivalent mouse variants that mirror the nucleotide and/or polypeptide change effects of human variants remains challenging. Here, we present H2M (human-to-mouse), a computational pipeline to analyze human genetic variation data to systematically model and predict the functional consequences of equivalent mouse variants. We show that H2M can integrate mouse-to-human and paralog-to-paralog variant mapping analyses with precision genome editing pipelines to devise strategies tailored to model specific variants in mice. We leveraged these analyses to establish a database containing > 3 million human-mouse equivalent mutation pairs, as well as in silico-designed base and prime editing libraries to engineer 4,944 recurrent variant pairs. Using H2M, we also found that predicted pathogenicity and immunogenicity scores were highly correlated between human-mouse variant pairs, suggesting that variants with similar sequence change effects may also exhibit broad interspecies functional conservation. Overall, H2M fills a gap in the field by establishing a robust and versatile computational framework to identify and model homologous variants across species while providing key experimental resources to augment functional genetics and precision medicine applications. The H2M database (including software package and documentation) can be accessed at https://human2mouse.com.

Journal Article↗
PubMed2026

Human genetic variation associates with infection by derived Ugandan M. tuberculosis lineage.

BACKGROUND: Several studies have examined host and pathogen genetic influences on tuberculosis (TB) susceptibility separately, but relatively few studied their combined effects. However, host-pathogen interactions or co-evolution may explain the inability to replicate many reported human genetic effects across global populations and provide additional insight into TB risk. In this study, we address such possible interactions by focusing on the outcome of infection with the L4-Uganda M. tuberculosis sub-lineage and human genetic variants as independent variables. This is possible because the L4-Uganda sub-lineage is both restricted to Uganda and nearby locations and is recent there, compared to other more ancestral L4 lineages. METHODS: Our study consisted of 276 culture-confirmed adult TB cases from a long-standing household contact study. We conducted a genome-wide association study, with infection with L4-Uganda versus L4-NonUganda as the outcome. RESULTS: Multiple loci with results suggestive of association (p<10-5) also demonstrated convergent relevant evidence for strain specific infection via: evidence of gene expression in relevant cells and lung tissue, signatures of natural selection, eQTL expression, and CRISPR screens for immunity-related genes. We also replicated previously published host-pathogen interaction effects, demonstrating that effects seen for other sub-lineages were also present for L4-Uganda. CONCLUSIONS: These results provide evidence for host-pathogen co-evolution in TB, consistent with our previous work, and indicate these interactions involve genes highly relevant to the host immune response to Mycobacterium infection.

GWAS↗
PubMed1992

Regulatory mutations and human genetic disease.

Mutations in gene promoter/regulatory regions represent an important class of lesion causing human genetic disease. Such mutations are associated with either increases or decreases in transcriptional activity mediated by the altered binding behaviour of trans-acting protein factors to specific DNA sequences in the promoter region. Although most promoter mutations are individually very infrequent, some occur at polymorphic frequencies. Both categories of lesion are likely to be important in clinical medicine and their study has already led to new insights into the mechanisms underlying the regulation of human genes.

Base Sequence↗
PubMed1979

X-linkage of a human genetic locus that corrects the DNA synthesis lesion in tsC1AGOH mouse cells.

GM 126 diploid fibroblasts were fused with a heat-sensitive mouse cell mutant defective in DNA synthesis, and primary hybrids were selected at permissive and nonpermissive temperatures in HAT medium. Primary hybrids, primary hybrid clones back-selected in 8-azaguanine at the permissive temperature, and subclones of heat-resistant primary hybrids isolated under nonselective conditions or after 8-azaguanine treatment were tested for heat sensitivity, the expression of 26 human enzymes assigned to 19 different human chromosomes, and the presence of human chromosomes. Only the human X chromosome and X-linked marker enzymes exhibited a clear pattern of concordant segregation with the heat-resistant phenotype. On the basis of these observations, we have defined the human genetic locus that corrects the heat-sensitive lesion in tsC1AGOH as hrC1AGOH and have assigned this locus to the X chromosome. This observation provides the first instance where two selectable markers (heat resistance and 8-azaguanine sensitivity) are found on a single human chromosome and suggests that these markers may prove to be a valuable push-pull selective system of use in determining the linear arrangement of genes on human chromosomes by somatic cell genetics.

Animals↗