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PubMed2004

Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes.

Catechol O-methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catecholestrogens and catechol drugs. A common COMT G472A genetic polymorphism (Val108/158Met) that was identified previously is associated with decreased levels of enzyme activity and has been implicated as a possible risk factor for neuropsychiatric disease. We set out to 'resequence' the human COMT gene using DNA samples from 60 African-American and 60 Caucasian-American subjects. A total of 23 single nucleotide polymorphisms (SNPs), including a novel nonsynonymous cSNP present only in DNA from African-American subjects, and one insertion/deletion were observed. The wild type (WT) and two variant allozymes, Thr52 and Met108, were transiently expressed in COS-1 and HEK293 cells. There was no significant change in level of COMT activity for the Thr52 variant allozyme, but there was a 40% decrease in the level of activity in cells transfected with the Met108 construct. Apparent K(m) values of the WT and variant allozymes for the two reaction cosubstrates differed slightly, but significantly, for 3,4-dihydroxybenzoic acid but not for S-adenosyl-L-methionine. The Met108 allozyme displayed a 70-90% decrease in immunoreactive protein when compared with WT, but there was no significant change in the level of immunoreactive protein for Thr52. A significant decrease in the level of immunoreactive protein was also observed in hepatic biopsy samples from patients homozygous for the allele encoding Met108. These observations represent steps toward an understanding of molecular genetic mechanisms responsible for variation in COMT level and/or properties, variation that may contribute to the pathophysiology of neuropsychiatric disease.

Animals↗
PubMed2002

Additive genetic variation under intraspecific competition and stabilizing selection: a two-locus study.

A diallelic two-locus model is investigated in which the loci determine the genotypic value of a quantitative trait additively. Fitness has two components: stabilizing selection on the trait and a frequency-dependent component, as induced, for instance, if the ability to utilize different food resources depends on this trait. Since intraspecific competition induces disruptive selection, this model leads to a conflict of selective forces. We study how the underlying genetics (recombination rate and allelic effects) interacts with the selective forces, and explore the resulting equilibrium structure. For the special case of equal effects, global stability results are proved. Unless the locus effects are sufficiently different, the genetic variance maintained at equilibrium displays a threshold-like dependence on the strength of competition. For loci with equal effects, the equilibrium fitnesses of genotypic values exhibit disruptive selection if and only if competition is strong enough to maintain a stable two-locus polymorphism. For unequal effects, disruptive selection can be observed for weaker competition and in the absence of a stable polymorphism.

Animals↗
PubMed1981

Genetic variation in the histoarchitecture of the hippocampal region of mice.

Timm's sulphide-silver method and the histochemical procedures for the demonstration of AChE, MAO and SDH were applied to the brains of three strains of adult mice of either sex: C57/BL/6J, DBA/2J and NMRI. Differences between strains were found 1) in the sulphide-silver pattern of the molecular layer of area dentata, probably reflecting differences in entorhinal, ipsilateral and/or commissural connections, 2) in the distribution of the mossy fibers, 3) in the AChE-staining of a suprapyramidal zone of regio inferior, probably reflecting differences in septal connections, 4) in the AChE-staining of the induseum griseum. The staining patterns for MAO and SDH did not vary, at least not qualitatively, between the strains investigated. Variation in adult age and sex did not influence the results. Since the differences observed seemed to reflect a pattern of genetic differentiation, five more inbred mice (A/J, AKR/A, BALB/c/A, C3H/Tif, St/6Fi) were included to strengthen the hypothesis that different genetic systems are operating at separate septo-temporal levels in the same areas during the development of the hippocampal formation.

Acetylcholinesterase↗
PubMed1977

The nature of quantitative genetic variation in Drosophila. III. Mechanism of dosage compensation for sex-linked abdominal bristle polygenes.

Seventeen lines, each homozygous for a different X chromosome but all with a common autosomal genetic blackground, were constructed and assayed for abdominal bristle number to determine whether dosage compensation operates for sex-linked genes affecting this character. --The regression coefficient of male mean on female mean using a logarithmic scale was 0.90 +/- 0.13 and the genetic regression coefficient 0.92, neither differing significantly from unity. The genetic components of variance in males and females were also very similar (0.000234 or 0.000228, respectively). These results indicate that dosage compensation is complete (or nearly so) for sex-linked genes affecting this character. The bristle scores of females did not differ in reciprocal crosses between these lines, thus dosage compensation does not operate by paternal X inactivation. --The question of an adequate scale for abdominal bristle number had to be examined during the study. A logarithmic scale appeared to be adequate for both genotypic and environmental differences.

Animals↗
PubMed1994

Genetic variation of residual feed consumption in a selected Finnish egg-layer population.

The purpose of the study was to estimate the heritability of residual feed consumption (RFC) and the genetic correlations between RFC and economically important traits. The genetic progress after four generations of selection for RFC and the changes in economically important traits were also investigated. A selection experiment for RFC was carried out from 1983 to 1987. The total data consisted of 3,750 birds and 2,661 records. The (co)variance components were calculated using derivative-free bivariate animal model restricted maximum likelihood (REML). Breeding values were estimated for calculating genetic progress in RFC and correlated responses in the other traits. The heritability of RFC calculated from the whole recorded period (16 to 42 wk) and using all 2,661 records was .46 (+/- .04). The genetic correlations between RFC and egg mass, number of eggs, egg weight, and body weight were not significant. The genetic correlation between RFC and feed consumption was .50 (+/- .04). The breeding value estimates indicated a moderate genetic progress in RFC due to selection. Feed consumption was decreased and body weight gain showed reduction in the last two generations. No change could be found in egg mass, number of eggs, egg weight, age at first egg, or body weight.

Animals↗
PubMedDate not supplied

[Preservation of genetic variation in domestic animals using biotechnical methods].

The conservation of endangered breeds as live animals is at present the main national strategy of the government and breeding organizations to maintain genetic diversity. Fourty-three breeds and some old strains of cattle, pig, sheep, goat and horses are currently involved. Cryopreservation and banks for sperm, embryos or DNA are another type of genetic material which could subsequently be used for breeding and production in agriculture. Present semen banks involve 9 endangered cattle breeds and also a small amount of deep-frozen sperm of some endangered sheep and horse breeds. Only 2 embryo banks are established in government projects for cattle breeds Murnau-Werdenfelser and the old type German black-white cattle.

Animals↗
PubMed2005

Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease.

Kawasaki disease (KD) is an enigmatic, self-limited vasculitis of childhood that is complicated by development of coronary-artery aneurysms. The high incidence of KD in Asian versus European populations prompted a search for genetic polymorphisms that are differentially distributed among these populations and that influence KD susceptibility. Here, we demonstrate a striking, inverse relationship between the worldwide distribution of CCR5- Delta 32 allele and the incidence of KD. In 164 KD patient-parent trios, 4 CCR5 haplotypes including the CCR5- Delta 32 allele were differentially transmitted from heterozygous parents to affected children. However, the magnitude of the reduced risk of KD associated with the CCR5- Delta 32 allele and certain CCR5 haplotypes was significantly greater in individuals who also possessed a high copy number of the gene encoding CCL3L1, the most potent CCR5 ligand. These findings, derived from the largest genetic study of any systemic vasculitis, suggest a central role of CCR5-CCL3L1 gene-gene interactions in KD susceptibility and the importance of gene modifiers in infectious diseases.

Chemokines, CC↗
PubMed2004

The human complement factor H: functional roles, genetic variations and disease associations.

Factor H is an essential regulatory protein that plays a critical role in the homeostasis of the complement system in plasma and in the protection of bystander host cells and tissues from damage by complement activation. Genetic and structural data generated during recent years have been instrumental to delineate the functional domains responsible for these regulatory activities in factor H, which is helping to understand the molecular basis underlying the different pathologies associated to factor H. This review summarises our current knowledge of the role of factor H in health and disease.

Bacteria↗
PubMed2004

Organization of genetic variation in individuals of arbuscular mycorrhizal fungi.

Arbuscular mycorrhizal (AM) fungi (Glomeromycota) are thought to be the oldest group of asexual multicellular organisms. They colonize the roots of most land plants, where they facilitate mineral uptake from the soil in exchange for plant-assimilated carbon. Cells of AM fungi contain hundreds of nuclei. Unusual polymorphism of ribosomal DNA observed in individual spores of AM fungi inspired a hypothesis that heterokaryosis--that is, the coexistence of many dissimilar nuclei in cells--occurs throughout the AM fungal life history. Here we report a genetic approach to test the hypothesis of heterokaryosis in AM fungi. Our study of the transmission of polymorphic genetic markers in natural isolates of Glomus etunicatum, coupled with direct amplification of rDNA from microdissected nuclei by polymerase chain reaction, supports the alternative hypothesis of homokaryosis, in which nuclei populating AM fungal individuals are genetically uniform. Intrasporal rDNA polymorphism contained in each nucleus signals a relaxation of concerted evolution, a recombination-driven process that is responsible for homogenizing rDNA repeats. Polyploid organization of glomeromycotan genomes could accommodate intranuclear rDNA polymorphism and buffer these apparently asexual organisms against the effects of accumulating mutations.

Cell Nucleus↗