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At least 847 records · Page 47Linked to original sources
PubMed1991

Genetic characterization of adenovirus transformed cell revertants resistant to methylglyoxal bis(guanylhydrazone): evidence for the involvement of three genetic loci.

Five new independent rat somatic cell mutants resistant to the antileukemic drug methylglyoxal bis(guanylhydrazone) (MGBG) were isolated after mutagen treatment. The mutants were 7- to 10-fold more resistant to MGBG than were the parental wild-type cells. When the MGBG-resistant (MGR) mutants were exposed to the drug in the presence of Tween-80, a nonionic detergent, they became as sensitive (MGS) to MGBG as the wild-type cells, indicating that they were probably permeability mutants. Genetic analysis of hybrids between MGR mutants and wild-type cells showed that MGR and the nontransformed alleles to be recessive to the MGS (wild-type) and transformed phenotype, respectively. Complementation analysis of the seven mutants revealed three functional genetic units or loci responsible not only for the MGR phenotype but also for tumorigenicity as determined in nude mice. Only the MGS hybrids produced tumors in the nude mice, whereas the MGR hybrids and mutants did not. Our results suggest the existence of cellular membrane components that are responsible both for cellular tumorigenicity and resistance to MGBG.

Adenoviridae↗
PubMed1989

Genetic studies of type 2 (non-insulin-dependent) diabetes mellitus: lack of association with seven genetic markers.

Type 2 (non-insulin-dependent) diabetes mellitus, a disease of complex aetiology, has been reported to be nonrandomly associated with several polymorphic markers in human populations. These data, plus evidence of a high prevalence of Type 2 diabetes mellitus in American Indians and mixed populations, such as Mexican-Americans, which is only partially attributable to the prevalence of obesity in these populations, makes it imperative that the nature of such associations be clarified in relation to genetic susceptibility to Type 2 diabetes mellitus. The present paper reports the results of tests of association between Type 2 diabetes mellitus and seven polymorphic markers: the blood groups - ABO, Rhesus, Duffy and Kell (K and KP) - haptoglobin and group specific component; among Anglo and Hispanic populations in the San Luis Valley of Colorado, USA. The sample population consisted of 788 individuals of which 398 were Anglo subjects (97 Types 2 diabetes mellitus patients and 301 normal individuals) and 390 Hispanic subjects (191 Type 2 diabetes mellitus patients and 199 normal individuals). Association between Type 2 diabetes mellitus and genetic markers in patients was tested using the G2 statistic within each ethnic class using normal frequencies as a comparison. Results of the tests indicated that only the Kell blood group was significantly associated with Type 2 diabetes mellitus at a 5% level among the Anglo subjects (G2 = 5.16, 1df). This significant value can be explained by chance alone, if multiple comparisons are taken into account. Our tests have not shown the previously reported haptoglobin or Rhesus blood group associations seen in Mexican-Americans in San Antonio, Texas.

Blood Group Antigens↗
PubMed1980

Convergence to genetically uniform state in stepping stone models of population genetics.

We investigate continuous time stepping stone model. Extending the models treated in population genetics, we consider the system described by the following infinite dimensional stochastic differential equation, (see text in formula) which contains the effects of random sampling drift and a kind of stochastic fluctuation in selection. We obtain a necessary and sufficient condition for the system to converge to a genetically uniform state.

Animals↗
PubMed1982

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 4. Genetic polymorphism of cytosol 100k polypeptide.

We describe a genetic polymorphism of a human cellular polypeptide with mol. wt. 100,000, detected in peripheral blood lymphocytes by high resolution two-dimensional electrophoresis. Three different electrophoretic types (1-1, 2-1, and 2-2) of the polypeptide have been identified. Family and population studies indicate that the three phenotypes of the polypeptide are determined by two common alleles at a single autosomal locus. The polypeptide occurs in the cytosol and is one of the abundant polypeptides of B-lymphoblastoid cells, T-lymphoblastoid cells, fibroblasts, and HeLa cells. The data indicate that the cytosol polypeptide with mol. wt. 100,000 shows a genetic polymorphism determined by a new autosomal locus. It is proposed that the polypeptide and its locus be temporarily designated cytosol 100k polypeptide (C100k polypeptide) and C100P, respectively. In a Japanese population, the gene frequencies of C100P1 and C100P2 were 0.907 and 0.093, respectively.

Alleles↗
PubMed1996

DNA in soil: adsorption, genetic transformation, molecular evolution and genetic microchip.

This review examines interactions between DNA and soil with an emphasis on the persistence and stability of DNA in soil. The role of DNA in genetic transformation in soil microorganisms will also be discussed. In addition, a postulated mechanism for stabilization and elongation/assembly of primitive genetic material and the role of soil particles, salt concentrations, temperature cycling and crystal formation is examined.

Adsorption↗
PubMed1982

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 2. Genetic polymorphism of lymphocyte cytosol 64K polypeptide.

We describe a genetic polymorphism of human lymphocyte cytosol major polypeptide with mol. wt. 64,000, detected in peripheral blood lymphocytes by high resolution two-dimensional electrophoresis. Three different electrophoretic types (1-1, 2-1, 2-2) of the polypeptide have been identified. Family and population studies indicate that the three phenotypes of the polypeptide are determined by two common alleles at a single autosomal locus. The polypeptide occurs in the cytosol and is predominant in peripheral blood lymphocytes, B-lymphoblastoid cells, T-lymphoblastoid cells, lymph node, and spleen. The polypeptide has not been detected HeLa cells, fibroblasts, erythrocytes, serum, and cerebrum. Traces of the polypeptide exist in liver, kidney, and skeletal muscle. It is proposed that the polypeptide and its locus be temporarily designated lymphocyte cytosol 64K polypeptide (LC64K polypeptide) and LC64P, respectively. In a Japanese population, the gene frequencies of LC64P1 and LC64P2 were 0.936 and 0.064, respectively. The data suggest that LC64P is a new locus, product of which shows genetic polymorphism and is associated with the function and/or the structure of lymphocytes.

Alleles↗
PubMed1987

Genetics of cystic kidney diseases. Criteria for classification and genetic counselling.

Despite the high incidence of cystic kidney diseases, affected families are not usually well informed of the inheritance of these disorders. Genetic counselling must be based on precise diagnostic criteria. Detailed information on the different types of cystic kidney disease is summarized, including clinical features, pathology, radiology, prenatal diagnosis and the risk of recurrence. In addition, a genetic interpretation is given of the Caroli syndrome, Potter sequence as well as congenital hepatic fibrosis.

Genetic Counseling↗
PubMed1991

The behavioral genetics of colony defense in honeybees: genetic variability for guarding behavior.

Guard honeybees stand at the entrance of colonies and facilitate the exclusion of nonnestmates from the colony. In this study, we examined the hypothesis that genetic variability among individuals in colonies might explain variability in guarding activity. To do this, we cross-fostered honey bees between colonies with high-defensive responses and colonies with low-defensive responses in alarm pheromone tests. Individuals from high-defensive colonies were more likely to guard in their own colonies (controls) than cross-fostered bees from low-defensive colonies. Cross-fostered high-defensive bees also were more like to guard in low-defense colonies. These results support the hypothesis that interindividual differences in guarding behavior are at least partially under genetic control. A positive correlation between number of guards and response to alarm pheromone demonstrates a link between behaviorally separated components of the overall defensive response.

Agonistic Behavior↗
PubMed2002

Analysis of genetic heterogeneity of hepatitis C viruses in Central America reveals a novel genetic lineage. Brief report.

Hepatitis C virus (HCV) has high genomic variability and at least six different types have been reported. The genotypes distribution is currently unknown among HCV strains circulating in Central America. In order to study the degree of genetic variability of strains isolated in Costa Rica, sequence data obtained from the 5' non coding region from 7 patients from Costa Rica were compared with published sequences from 57 strains of all types. The phylogenetic analysis revealed the existence of type 1 strains of a novel genetic lineage, recently described for some South American countries, and indicates an increasing diversification of HCV.

5' Untranslated Regions↗
PubMed2001

Genetic variability of respiratory syncytial virus subgroup B strain isolated during the last 20 years from the same region in Japan: existence of time-dependent linear genetic drifts.

The genetic variability of 32 respiratory syncytial virus (RSV) sub-group B isolates from a single community in Japan during the 20 years from 1980 to 1999 was determined. Two variable regions of the attachment (G) protein gene were amplified by reverse transcriptase-polymerase chain reaction amplification and their products were sequenced directly. Phylogenetic analysis of nucleotide sequences revealed seven distinct branches in which strains isolated during seasons of close proximity were located: however, isolates from the same season were often in plural branches. There was a tendency for recent isolates to lie at the end of each branch and these linear evolutionary changes were typically represented in a branch containing nine strains isolated during 6 seasons from '80 to '86. Three kinds of usages of stop codons were confirmed and isolates located in each branch used the same stop codons. These observations suggest that there are multiple subgroup B lineages co-circulating and that each lineage strain may exhibit linear evolutionary genetic drifts in order to survive over successive epidemics within the same population, although it has a conserved uniform G protein length with the use of the same stop codon.

Amino Acid Sequence↗
PubMed2002

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.

Charcot-Marie-Tooth (CMT) disease represents a clinically and genetically heterogeneous group of inherited neuropathies caused by aberration of the intimate relationship between the myelin sheath and the axon; disorders causing demyelination are classified as CMT1 and those causing axonal loss as CMT2. The mechanisms by which mutations disturb the relationship of the myelin sheath and axon are not fully understood; however, we hypothesize that some mutations affect this relationship more profoundly than others, and thus account for the paradox that mutation of a "myelin gene" can present with electrophysiologic features of CMT2 and vice versa. Also, contrary to popular understanding, inherited neuropathies account for a substantial number of chronic peripheral neuropathies. Because of this observation, we propose that molecular diagnosis is a necessary adjunct for differentiating genetic and acquired peripheral neuropathies, even in sporadic chronic neuropathy.

Charcot-Marie-Tooth Disease↗
PubMed1994

Meeting report of the EC/US workshop on genetic risk assessment: "human genetic risks from exposure to chemicals, focusing on the feasibility of a parallelogram approach".

This workshop was the concept of Professor Frits Sobels who passed away on the 6th of July 1993. The underlying idea of the Sobels' parallelogram approach is that an estimate (corrected by DNA-adduct dosimetry) of the genetic damage in human germ cells can be obtained by measuring a common endpoint in human and mouse somatic cells (such as gene mutation in lymphocytes) and in germ cells of mice, the desired target tissue inaccessible in humans. The main objective of the workshop was to identify the methodology, data requirements and mechanistic research to understand the human health impact of germ-cell mutagens. 4 chemicals were selected for review at the meeting: ethylene oxide, 1,3-butadiene, acrylamide and cyclophosphamide. The first 3 are important industrial chemicals with substantial use worldwide and, therefore, considerable potential human exposure. The 4th, cyclophosphamide, is a commonly used cancer chemotherapeutic agent. This first EC/US workshop on risk assessment was highly focused on the feasibility of the parallelogram concept to estimate potential germ-cell effects in humans. It represented an evaluation of current knowledge and the identification of future research needs for a more precise assessment of human genetic risks from exposure to mutagenic chemicals.

Animals↗
PubMed1996

An overview of schizophrenia genetic research presented at the 1995 World Congress on Psychiatric Genetics, Cardiff.

The 1995 World Congress on Psychiatric Genetics was held in Cardiff, UK, from August 29th to September 1st 1995. Two hundred and forty-seven posters were presented wherein approximately 130 studies were on schizophrenia. An overview of them is reported here. The abstracts of these studies are published in Psychiatric Genetics (vol. 5, suppl. 1, 1995).

Chromosomes, Human, Pair 22↗
PubMed2005

Myeloperoxidase genetic polymorphisms modulate human neutrophil enzyme activity: genetic determinants for atherosclerosis?

OBJECTIVE: Myeloperoxidase (MPO), an abundant leukocyte hemoprotein has been linked to atherosclerosis and cardiovascular disease. We previously found new genetic polymorphisms in MPO gene. The purpose of this study was to evaluate the influences of these polymorphisms on human neutrophil MPO activity by means of haplotype analysis. METHODS AND RESULTS: Neutrophils from 102 blood donors were isolated and MPO activity was measured, while subjects were genotyped for polymorphisms located in MPO gene 5'non-coding region (-1940A > G, -638C > A, -463G > A and -129G > A) and in coding region (V53F, M251T, A332V, I642L and I717V). Single-point analysis showed that the -638C > A and the V53F polymorphisms were significantly associated with MPO activity, and haplotype analysis confirmed that two haplotypes, one carrying the -638A allele and the other carrying the 53F allele, resulted an increase in MPO activity. CONCLUSION: Since MPO is suspected to be a bio-marker in cardiovascular disease, -638C > A and V53F polymorphisms associated with increased enzymatic activity could be genetic determinants for cardiovascular disease risk.

Alleles↗
PubMedDate not supplied

Adapting genetic regulatory models by genetic programming.

In this paper, we focus on the task of adapting genetic regulatory models based on gene expression data from microarrays. Our approach aims at automatic revision of qualitative regulatory models to improve their fit to expression data. We describe a type of regulatory model designed for this purpose, a method for predicting the quality of such models, and a method for adapting the models by means of genetic programming. We also report experimental results highlighting the ability of the methods to infer models on a number of artificial data sets. In closing, we contrast our results with those of alternative methods, after which we give some suggestions for future work.

Algorithms↗
PubMed2004

Genetic analysis of human H2N2 and early H3N2 influenza viruses, 1957-1972: evidence for genetic divergence and multiple reassortment events.

Phylogenic analysis of all gene segments of human H2N2 viruses isolated from 1957 to 1968 was undertaken to better understand the evolution of this virus subtype. Human H3N2 viruses isolated from 1968 to 1972 were also examined to investigate genetic events associated with their emergence in humans and to identify the putative H2N2 ancestral virus. All gene segments of human H2N2 viruses demonstrated divergent evolution into two distinct clades (I and II) among late H2N2 isolates. All gene segments of 1968 H3N2 viruses that were retained from human H2N2 viruses were most similar to clade I H2N2 genes. However, genes of both clades were found among H3N2 isolates of 1969-1971. Unique phylogenic topologies reflected multiple reassortment events among late H2N2 or H3N2 viruses that resulted in a variety of different genome constellations. These results suggest that H2N2 viruses continued to circulate after 1968 and that establishment of H3N2 viruses in humans was associated with multiple reassortment events that contributed to their genetic diversity.

Amino Acid Sequence↗
PubMed2005

[Genetic susceptibility to the development of acute alcoholic hepatitis: role of genetic mutations in dehydrogenase alcohol, aldehyde dehydrogenase and cytochrome P450 2E1].

OBJECTIVE: Analyze the frequencies of genetic mutation in alcohol dehydrogenase (ADH), aldehyde dehydrogenase (ALDH) and cytochrome P450 2E1 (CYP2E1) and establish their possible association with the development of acute alcoholic hepatitis (AAH). METHODOLOGY: Case-control study in a total of 85 Spanish patients. We distinguish three groups (one case group and two control groups) based on hepatic histological lesion and alcohol consumption: controls (group 1: teetotalers; group 2: drinkers without AAH; cases: group 3: drinkers with AAH). Case diagnosis was established based on the presence of polymorphonuclear leukocyte infiltrate in histological study. We analyzed the presence of the genetic mutations R47H and R369C (ADH2), E487K (ALDH2) and mutation Rsa I of CYP2E1 (allele c2) by polymerase chain reaction (PCR) and capillary electrophoresis. RESULTS: The allele c2 of CYP2E1 was found in 10%, 16% and 50% of the groups 1, 2 and 3 patients, respectively. Presence of the mutation Rsa I showed influence on the development of AAH (odds ratio [OR]: 3.63; confidence interval (95% [CI]: 0.88-15.02). CONCLUSIONS: The data suggest a possible association between the presence of the Rsa I of CYP2E1 and the development of AAH in patients with chronic alcohol consumption.

Acute Disease↗
PubMed2001

Cancer predisposition in mutant mice defective in multiple genetic pathways: uncovering important genetic interactions.

Mouse models that mimic the human skin cancer-prone disease xeroderma pigmentosum (XP) provide an useful experimental system with which to study the relationship between the DNA repair process of nucleotide excision repair (NER) and ultraviolet- (UV) induced skin carcinogenesis. We have generated Xpc mutant mice and documented their deficiency in the process of NER of UV-induced DNA damage. Xpc mutant mice are highly predisposed to UV-B radiation-induced skin cancer, both in the homozygous and the heterozygous state. The combination of Xpc and Trp53 mutations enhances this predisposition and alters the tumor spectrum observed in single mutant mice. These results suggest a synergism between NER and the function of Trp53 in suppression of cancer. We have examined the mutational spectrum in the Trp53 gene from skin cancers in Trp53+/+ and Trp53+/- mice of all three Xpc genotypes and have found evidence for signature mutations associated with defective NER. In addition, we have demonstrated that Xpc mutant mice are highly predisposed to the induction of lung and liver cancers by treatment with 2-acetylaminofluorene (2-AAF) and N-OH-2-AAF. By combining the Xpc mutation with other mutations in genes involved in repair of DNA damage we have identified additional genetic interactions important in carcinogenesis. The mouse Apex gene is a critical component of the base excision repair (BER) pathway as well as the redox regulation of transcription factors important in growth control and the cellular response to DNA damage. By combining mutations in Xpc, Trp53 and Apex we have obtained genetic evidence for a functional interaction between Apex and Trp53 which probably involves the activation of the Trp53 protein by Apex. Mutations in the mismatch repair (MMR) gene Msh2 also influence the carcinogenesis observed in Xpc Trp53 mutant mice. Our results demonstrate that multiple repair pathways operate in prevention of tumor formation.

2-Acetylaminofluorene↗