Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetic variations”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMedDate not supplied

Genetic variation in number of pituitary PAS-purple cells in the house mouse.

A genetic variation in the number of pituitary PAS-purple cells in the house mouse is described. C57BL/K1 mice have low and DBA/2/K1 mice have high numbers of these cells in both peripheral and central parts of the anterior pituitary gland. The variation may be due to a single locus with incomplete dominance for the low-number allele. There is no correlation with glucuronidase or galactosidase activities and no association with the b and d loci.

Animals↗
PubMed2026

Climate Gradients and Habitat Discontinuity Structure Genetic Variation in a Spring-Specialist Plant.

BACKGROUND AND AIMS: Groundwater-dependent ecosystems support disproportionate biodiversity in arid regions, yet the population genetics of spring-specialist plants remains poorly understood. Here, we present the first species-wide genetic dataset for crimson monkeyflower (Mimulus verbenaceus, Phrymaceae), a spring-specialist plant distributed in seeps, springs, and associated riparian areas across desert regions of North America. We aim to relate landscape features and climate gradients to the spatial genetic structuring within this system. METHODS: Using genome-wide reduced representation sequencing data consisting of 10,760 SNPs from 175 individuals across 17 populations, we characterized the patterns of genetic differentiation and diversity. Population structure was assessed using ADMIXTURE and Principal Component Analysis. We examined the contributions of climate to range-wide genetic variation in crimson monkeyflower using redundancy analysis. KEY RESULTS: Patterns of genetic differentiation were more consistent with those of spring-specialist animal taxa than those of upland plants or generalist riparian plants. We found strong population structure at both broad regional scales and at fine local scales. While geographic and spatial structuring was a primary driver of genetic structure across all scales, riparian connectivity influenced local patterns of diversity, and adaptation to local climatic variation was more influential at regional scales, with temperature, relative humidity, and a monsoon-driven climate gradient contributing to genetic differentiation. CONCLUSIONS: Our findings highlight the distinctive association with isolated perennial groundwater sources, as well as climate gradients, with genetic variation in this spring-specialist plant. These findings suggest that spring-specialist plants deserve special consideration in ecological theory, management, and conservation.

Mimulus↗
PubMed1979

Genetic variation in alkaline phosphatase of the house mouse (Mus musculus) with emphasis on a manganese-requiring isozyme.

Genetic variation among inbred strains is described for electrophoretic migration of alkaline phosphatase from intestine, kidney, blood plasma, and three isozymes of liver. A manganese-requiring isozyme of liver and kidney unaffected by neuraminidase is described, and the locus controlling variation in this isozyme is designated Akp-1. Data from recombinant inbred strains place the locus on chromosome 1 at a distance of 3.6 +/- 2.9 cM from the M1s locus on the side distal to the centromere. Test-cross data show the following gene order and recombination percentages: Dip-1 19.0 +/- 3.8% Lp 7.4 +/- 2.2% Akp-1.

Alkaline Phosphatase↗
PubMed1977

Detection of genetic variation with radioactive ligands. I. Electrophoretic screening of plasma proteins with a selected panel of compounds.

To detect new genetic variation in human plasma proteins, a panel of 63 radioactive substances were screened as potential radioligands using polyacrylamide gel electrophoresis (PAGE) and autoradiography. Vitamins, hormones, drugs, amino acids, purines, pyrimidines, sugars and lipids labeled with 14C or other radionuclides were among those substances tested. A majority bound to albumin and a smaller fraction to prealbumins and lipoproteins. Several vitamins and hormones bound to specific alpha and beta globulins. (1) Electrophoretic polymorphisms of vitamin D-binding protein (group-specific component), a vitamin B12-binding protein (transcobalamin II), and thyroxine-binding alpha-globulin are described elsewhere. (2) Testosterone-binding beta-globulin (TeBG) showed an electrophoretic polymorphism in Caucasians and a possible deficiency allele. (3) Transcortin showed an electrophoretic doublet in all persons tested but no electrophoretic variation. (4) A protein binding derivative of norepinephrine or epinephrine was identified as transferrin. (5) A nonpolymorphic protein running cathodal to albumin and binding a derivative of riboflavin was tentatively identified as a fraction of albumin with mobility altered as a result of interaction with the ligand.

Adult↗
PubMed2026

Global downstream BMP15 pathway analysis in human ovarian granulosa cells reveals novel genetic variations associated with primary ovarian insufficiency.

OBJECTIVES: Primary ovarian insufficiency (POI) is a fertility disorder with a well-established genetic component, but many cases still remain idiopathic. Approximately 1.5-12% of patients with POI can carry a variant in the BMP15 gene, depending on the population and the diagnostic criteria. We hypothesize that genetic variations within pathways downstream of BMP15 activity in ovarian granulosa cells (GCs) may contribute to unexplained cases of POI. The main goal of this study is to identify novel variants associated with POI in genes induced by BMP15 in GCs. STUDY DESIGN: Primary cultures of human GCs were stimulated with recombinant human BMP15. Microarray analysis profiled the BMP15-induced transcriptome in GCs. Validation was achieved by qPCR and immunoblot. Further, target exome sequencing of the differentially expressed genes was performed on 64 women with early POI onset in search of novel variants. MAIN OUTCOME MEASURES: Transcriptome profiling of human GCs stimulated with BMP15 and target exome sequencing in women with early onset of POI. RESULTS: Transcriptome analysis revealed significant upregulation of 19 genes (p&#xa0;<&#xa0;0.05). Ontology analysis of these genes converged towards two main pathways: TGF-beta signaling and regulation of stem cell pluripotency. Target exome sequencing identified six novel rare variants in five BMP15-induced genes (SAMD11, SMAD6, ID1, USP35, GPCR137C) in 9 of the 64 women with early POI (14%). CONCLUSIONS: BMP15 action in human ovarian GCs defines TGF-beta signaling and pluripotency fate in ovarian follicles. In addition, this study uncovers new potential candidate genes for the pathogenesis of POI.

Humans↗
PubMed1976

Genetic variation in two widespread species of salamanders, Taricha granulosa and Taricha torosa.

Two species of the genus Taricha are widely distributed. T. granulosa ranges from southern Alaska to central California. T. torosa is comprised of two described subspecies, T. t. torosa, which occupies much of the coast ranges of California, and T. t. sierrae, which inhabits the western slopes of the Sierra Nevada Mountains. A starch gel electrophoretic survey for genetic variation at 34 loci in four population samples of T. granulosa and at 40 loci in five population samples of T. torosa reveals differences among these taxa both in amounts of intrapopulational variability and in patterns of geographic variation. Average observed heterozygosity is 9.6% +/- 0.3% in T. granulosa, 3.3% +/- 0.5% in T. t. torosa, and 7.2% +/- 1.2% in T. t. sierrae. Average numbers of alleles per lon T. t. sierrae, and lowest in T. t. torosa. Oregon and California granulosa are genetically nearly as different as the subspecies of torosa, but geographic variation is continuous in the former. T. torosa on the other hand is comprised of three distinct gene pools--T. t. sierrae and northern and southern races of T. t. torosa. Strikingly different amounts of intrapopulational genetic variation and patterns of geographic variation may be explained by steady-state species differences, but historical causes may also exist.

Animals↗
PubMed1978

Genetic variation of some aldehyde-oxidizing enzymes in the mouse.

1. Twenty-six strains of mice were surveyed by starch gel electrophoresis for genetic variation of four liver enzymes; aldehyde dehydrogenase, aldehyde oxidase, xanthine oxidase and formaldehyde dehydrogenase. 2. A variant of aldehyde dehydrogenase was found in strains ICFW, IS/Cam, NZB, NZW, Simpson and Schneider. A variant of aldehyde oxidase was found in CE. A possible variant of xanthine oxidase was found in SF/Cam. 3. The gene determining the electrophoretic variant of aldehyde oxidase is either the same as, or very closely linked to, the Aox gene which determines aldehyde oxidase activity.

Aldehyde Oxidoreductases↗
PubMed2026

Genetic architecture of postpartum psychosis: from common to rare genetic variation.

Postpartum psychosis is a severe psychiatric condition marked by the abrupt onset of psychosis, mania, or psychotic depression following childbirth. Despite evidence for a strong genetic basis, the roles of common and rare genetic variation remain poorly understood. Leveraging data from Swedish national registers and genomic data from the All of Us Research Program, we estimated family-based heritability at 55% and whole-genome sequencing-based heritability at 46%. Rare coding variant analysis identified HMGCR as a gene in which rare damaging variants confer risk for postpartum psychosis (FDR&#x2009;<&#x2009;0.05). Analyses of 240,009 participants from the All of Us Research Program and 58,990 participants from the Mount Sinai BioMe Biobank identified significant associations linking deleterious rare variants in HMGCR to vascular dementia and mental disorder, not otherwise specified, supporting the gene's broader psychiatric relevance. Additionally, among the top 200 genes ranked by association statistics, 17% of bipolar disorder, 21% of schizophrenia, and 16-25% of multiple autoimmune disorders exhibit a possible association with postpartum psychosis. These findings reveal unique genetic contributions and shared pathways, providing a foundation for understanding pathophysiology and advancing therapeutic strategies.

Humans↗
PubMed2026

Swimming Upstream to Understand Congenital Anomalies of the Kidney and Urinary Tract: Zebrafish Models for Developmental Biology, Disease Mechanisms, and Functional Interpretation of Genetic Variation.

Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of pediatric chronic kidney disease (CKD) and comprise a heterogeneous group of developmental disorders with a substantial genetic contribution. Advances in next-generation sequencing have facilitated the identification of numerous candidate genes and rare variants associated with CAKUT. However, establishing causality and defining the biological functions of implicated genes remain major challenges. Functional validation is therefore essential to bridge the gap between gene discovery and mechanistic understanding, enabling the interpretation of genetic variation within the context of kidney development and disease. The zebrafish (Danio rerio) has emerged as a powerful in vivo model for studying renal development and interrogating the function of CAKUT-associated genes. Its utility stems from a high degree of genetic and developmental conservation with humans, conserved nephrogenic pathways, optical transparency during embryogenesis, and the relative ease of genetic manipulation. In this review, we provide an overview of zebrafish kidney development within the broader context of vertebrate nephrogenesis, highlighting the key genetic programs governing intermediate mesoderm specification, nephron segmentation, and pronephric morphogenesis. We then systematically examine CAKUT-associated genes that have been modeled in zebrafish, focusing on studies that have linked genetic perturbations to renal development and structural phenotypes. Finally, we discuss the strengths and limitations of zebrafish models for functional genomics and variant interpretation and consider their emerging role in bridging genetic discovery with mechanistic insights into CAKUT pathogenesis.

Animals↗
PubMed1975

Genetical variation for enzyme activity in a population of Drosophila melanogaster. III. Dominance relationships for alcohol dehydrogenase activity.

Four inbred lines, two homozygous AdhS/S and two homozygous AdhF/F, were extracted from a laboratory cage population of Drosophila melanogaster and crossed in all combinations. Directional dominance for low ADH activity was present and confined to AdhF/S heterozygotes. The remaining genetical differences between the four lines for ADH activity were due to additive genetical variation. The frequency of the AdhS allele in the population was 0-89. The observed directional dominance for low ADH activity in AdhF/S heterozygotes corresponded to the general direction of selection for ADH activity within the population.

Alcohol Oxidoreductases↗
PubMed1975

Genetical variation for enzyme activity in a population of Drosophila melanogaster. II. Aspects of the inheritance of alcohol dehydrogenase activity in Adhs/s flies.

Two inbred lines of Drosophila melanogaster extracted from a laboratory cage population and homozygous for the AdhS allele of alcohol dehydrogenase (Adh) showed almost a twofold difference in specific activity. Analysis of generations derived from these lines showed that the genetic variation in ADH activity was controlled by additive gene action. There was no evidence of directional dominance or of non-allelic interactions. Although the Adh structural gene is on the second chromosome there was a significant effect of the X chromosome, indicating the action of modifying genes.

Alcohol Oxidoreductases↗
PubMed1978

Genetic variation in activity of the enzymes of glycolysis and gluconeogenesis between inbred strains of mice.

Variation in the activity of 21 liver and 15 erythrocyte enzymes between seven inbred strains of mice has been studied in a single area of metabolism, glycolysis and gluconeogenesis. Most of the variation between the strains is genetic. From the variation within and between inbred strains heritabilities (H2) were determined. Out of 35, 26 showed significant values above 0.4. A comparison with previously published work suggests that enzyme activities have mainly dominance and interaction components of variance, and this is discussed in relation to the variation in quantitative characters such as growth. In nine of the pairwise comparisons of the strains, the activity of the enzyme varied more than two-fold. In these cases the genetics and biochemistry of the enzyme was studied; F2 progeny were produced and assessed for segregation, and the heat stability of the enzyme was determined. No unequivocal segregation was observed, although in one case we found a considerable difference in heat stability. The variations found were not considered to be great enough to be useful as models of human inborn errors of metabolism or to study metabolic control. If such variants are to be found, sources of variation other than inbred strains must be used.

Animals↗
PubMed1979

Genetic variation in Hawaiian Drosophila. VIII. Heterozygosity and genic changes in isolated populations of D. engyochracea.

Drosophila engyochracea, an endemic Hawaiian fly found only in two, finite populations in Volcano National Park, has extensive electrophoretic heterozygosity on a par with that found in species with much wider distributions. A study of six polymorphic loci in both populations over an 18-month period revealed that the population in the more xeric environment is more dynamic genetically as well as more variable. In addition, genetic changes at one locus, Pgm, are correlaed to changes in an environmental moisture parameter. These findings confirm that migration is not necessary to maintain genetic variation in isolated population and demonstrate that D. engyochracea gene pools are susceptible to errors in Hardy-Weinberg equilibria during specific seasonal periods.

Animals↗
PubMed2026

Type I Interferon Signature is Associated With Lung Disease, Drug-Associated Immune Reactions, and Genetic Variation in Interferon-Linked Pathways in Still Disease.

OBJECTIVE: To evaluate the relationship across type I interferon (IFN-I)-stimulated gene (ISG) expression, Still disease, and the development of lung disease (LD) and drug-associated immune reactions (DAIR) to interleukin-1 (IL-1) and/or IL-6 inhibitors. METHODS: Whole blood ISG expression was quantified by NanoString array. ISG-28 scores were calculated in consecutive patients with Still or Still-like disease. Exome sequencing with family-based variant prioritization identified candidate genes harboring rare candidate causative variants. Lists of candidate genes were subjected to functional enrichment analysis. RESULTS: Among 57 patients (32 children, 25 adults), 16 had elevated ISG-28 scores. This group exhibited higher prevalence of LD (0.44 vs 0.1, P&#xa0;=&#xa0;0.007) and DAIR (0.63 vs 0.17, P&#xa0;=&#xa0;0.003) and lower IL-6 inhibitor use (0 vs 0.25, P&#xa0;=&#xa0;0.048) compared to others. No significant differences were found in the rates of macrophage activation syndrome, active disease, elevated IL-18, or current IL-1 inhibition. The combination of HLA-DRB1*15 with high ISG-28 scores is associated with LD and DAIR with high specificity, whereas absence of both biomarkers had high negative predictive value. Candidate genes from high ISG-28 individuals were enriched in IFN-related pathways, including autophagy, IFN-I production, toll-like receptor signaling, macrophage activation, cytoskeletal organization, and responses to stress. CONCLUSION: High IFN-I expression correlates with LD and DAIR in Still disease, linked to rare genetic variation in immune pathways. Combining high ISG-28 with HLA-DRB1*15 significantly improves post hoc stratification of patients for these complications. If prospectively validated, these findings may guide molecular risk assessment and targeted therapies, including IFN-I directed treatments in Still disease with IFN-I signature.

Humans↗