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PubMed1977

The hemoglobins of Artemia salina. V. Genetic variation in hemoglobin 1, hemoglobin 2, and hemoglobin 3.

Electrophoretic mobilities of three hemoglobins (Hb1, Hb2, and Hb3) were studied in 15 populations of brine shrimps. Genetic segregation data support the model that Hb2 contains n alpha-polypeptides and n beta-polypeptides; Hb1 contains 2n alpha-polypeptides- Hb3 contains neither alpha- nor beta-polypeptides. There is no evidence of linkage of alpha and beta loci with each other or with the locus (or loci) which governs Hb3 or with the nonhomologous portion of the sex chromosomes. Hemoglobins of different populations may be hybridized in vitro by incubation at high temperature. Reversible dissociation to subunits which contain only one (alpha or beta) polypeptide occurs at 40 C (for Hb1) and at 50 C (for Hb2).

Alleles↗
PubMed1998

Genetic variation at the apoA-IV gene locus and response to diet in familial hypercholesterolemia.

Plasma lipid response to dietary fat and cholesterol is, in part, genetically controlled. The apolipoprotein A-IV (apoA-IV protein; APOA4, gene) has been shown to influence the response to dietary changes in normolipidemic individuals. The response to diet in subjects with familial hypercholesterolemia (FH) is also variable, and no studies are available on the influence of APOA4 mutations on dietary response in these subjects. We studied the effect of 2 common apoA-IV genetic variants (Gln360-->His and Thr347-->Ser) on the lipid response to the National Cholesterol Education Program type I (NCEP-I) diet in 67 FH heterozygotes (43 women and 24 men). Subjects were studied at baseline (after consuming for 1 month a diet with 35% fat [10% saturated] and 300 mg/d cholesterol) and after 3 months of consuming a low-fat diet. No sex-related differences were found, and results were combined for men and women. The APOA4-360 mutation was assessed in 67 subjects, 51 with genotype 1/1 and 16 with genotype 1/2. The APOA4-2 allele was associated with marginally significantly lower (P=0.049) low density lipoprotein (LDL) cholesterol levels and significantly lower (P=0.027) apoB levels independent of diet effects. After consuming an NCEP-I diet, carriers of the APOA4-2 allele showed a significantly lower reduction in apoB concentration (6.2%) than 1/1 subjects (14.1%; P=0.036); however, no significant differences in response were noted for LDL cholesterol. The APOA4-347 mutation was assessed in 63 individuals, 44 with the A/A allele and 19 with the A/T and T/T alleles. No significant differences were observed in baseline or post-NCEP-I diet values for these 2 groups in total, LDL, and high density lipoprotein cholesterol and plasma apoB levels. After dietary intervention, A/A individuals showed significant reductions in plasma triglyceride and very low density lipoprotein cholesterol levels; no changes were found in carriers of the T allele. Haplotype analysis suggested that in these FH subjects, the APOA4-360-2 allele was associated with lower plasma lipid levels during the NCEP-I diet period, whereas no significant effects were observed for the APOA4-347-T allele.

Adult↗
PubMed2003

[Dynamics of genetic variation of Sartov cultivars of common wheat Triticum aestivum L. (from the gliadin-coding locus) after a an 80-year period of scientific selection].

Based on analysis of gliadin patterns in common wheat cultivars developed at the Research Institute of Agriculture of the Southeast, profile dynamics in gliadin loci has been surveyed for the period of over eight decades. It was shown that long-term breeding of the wheat cultivars involved gradual replacement of alleles characteristic of ancient cultivars for those widely spread in the world, which are probably linked with alleles that currently confer advantage to their carriers. The process of reduction of inter-population genetic diversity in wheat (with special reference to the allele frequency dynamics at gliadin loci) is discussed. This process is responsible for genetic erosion of the species.

Genetic Variation↗
PubMed2003

Cancer drugs, genetic variation and the glutathione-S-transferase gene family.

The glutathione-S-transferase (GST) super family comprises multiple isozymes (Alpha, Mu, Pi, Omega, Theta, and Zeta) with compelling evidence of functional polymorphic variation. Over the last two decades, a significant body of data has accumulated linking aberrant expression of GST isozymes with the development and expression of resistance to cancer drugs. Clinical correlation studies show that genetic differences within the human GST isozymes may play a role in cancer susceptibility and treatment. The initial confusion was presented by the fact that not all drugs used to select for resistance were substrates for thioether bond catalysis by GSTs. However, recent evidence that certain GST isozymes possess the capacity to regulate mitogen activated protein kinases presents an alternative explanation. This dual functionality has contributed to the recent efforts to target GSTs with novel small molecule therapeutics. While the ultimate success of these attempts remains to be shown, at least one drug is in late-stage clinical testing. In addition, the concept of designing new drugs that might interfere with protein:protein interactions between GSTs and regulatory kinases provides a novel approach to identify new targets in the search for cancer therapeutics.

Antineoplastic Agents↗
PubMed2001

Variable association between genetic variation in the CYP7 gene promoter and plasma lipoproteins in three Canadian populations.

The promoter sequence variant -278A in the CYP7 gene, which encodes cholesterol 7-alpha hydroxylase, was previously reported to be associated with reduced plasma low density lipoprotein (LDL) cholesterol concentration. We tested for association of CYP7-278A with plasma lipoprotein traits in samples taken from three distinct Canadian populations: 594 Alberta Hutterites, 325 Ontario Oji-Cree and 190 Keewatin Inuit. The CYP7-278A allele frequencies in these three groups were 0.708, 0.466 and 0.490, respectively. The frequencies of CYP7-278A/A homozygotes were 0.481, 0.215 and 0.247, respectively. In the Hutterites, CYP7-278A was associated with reduced plasma HDL-cholesterol and apolipoprotein AI concentration. In the Oji-Cree, CYP7-278A was not significantly associated with any plasma lipoprotein trait. In the Inuit CYP7-278A was associated with elevated plasma total and LDL-cholesterol. There was no consistent relationship between the population mean plasma LDL-cholesterol concentration and the population CYP7-278A frequency. Our findings suggest that the common -278A promoter variant of CYP7 was inconsistently associated with variation in plasma LDL- and HDL-cholesterol in samples from three independent populations. The inconsistencies could be due to differences in genetic background or to unspecified environmental or genetic factors.

Adult↗
PubMed1992

Reproductive rate and genetic variation in composite and parental populations: experimental results in sheep.

Mean and genetic variability for ewe performance of two composite populations were compared with those of their contemporary parent lines to assess relative potential for continued response from selection. Data were from the U.S. Meat Animal Research Center, 1973 to 1983. The 4,415 ewes by 508 sires of Finnsheep (F), Rambouillet (R), Dorset (D), and Composite 1 (C1 = F/2 + R/4 + D/4) lines were mated in April, August, and December of each year. The 1,763 ewes by 320 sires of Finnsheep (F), Suffolk (S), Targhee (T), and Composite 2 (C2 = F/2 + S/4 + T/4) were mated in October only. Data were adjusted for effects of year, season, and age of ewe at breeding, plus interval between lambings, for the accelerated lambing lines and for year and age at breeding for the annual lambing lines. Superiority of composite over parent lines in lambs weaned per ewe exposed was 36% for accelerated and 44% for annual lambing lines; that superiority arose largely from dominant heterotic effects for fertility and viability. Weighted mean paternal half-sib estimates of heritability for mean lifetime ewe performance of composite vs parental lines were 32 vs 23% for litter birth weight, 25 vs 28% for lamb birth weight, 26 vs 11% for number born, 11 vs 23% for conception rate, 5 vs 10% for number weaned, -1 vs 19% for lamb weight at 42-d weaning, but 6 vs 23% for number and 8 vs 28% for litter weight weaned per ewe exposed. Heritability was higher in composites than in parental lines for numbers born, but it was lower for the more heterotic traits (fertility, lamb viability) and, hence, for total weaned lamb output, without change in phenotypic variation. Thus, even an equal response in composites from continuing selection for weaned lamb output may depend mainly on more intense selection permitted by a higher reproductive rate.

Age Factors↗
PubMed1998

Genetic variation of the european eel (Anguilla anguilla)

The genetic population structure of the European eel Anguilla anguilla L. was investigated by sequencing the mitochondrial D-loop region of 55 eels caught at different European locations. In total, 51 haplotypes were identified. Pairwise genetic distances ranged from 0% to 6.33% with an average value +/- SD of 3.01% +/- 1.18%, indicating little DNA differentiation among the European eel population. None of the node bifurcations of the neighbor-joining phylogenetic tree was strongly supported, suggesting that all European eels derive from a common genetic pool. The same result was obtained by a statistical test that confirmed the absence of geographic subdivision in the genotypes of the European eel population. The reported genetic homogeneity of the European eel is discussed in relation to different hypothetical life history scenarios.

Journal Article↗