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Results for “structural variation”

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At least 361 records · Page 20Linked to original sources
PubMed2005

Period3 structural variation: a circadian biomarker associated with breast cancer in young women.

Circadian disruption has been indicated as a risk factor for breast cancer in recent epidemiologic studies. A novel finding in circadian biology is that genes responsible for circadian rhythm also regulate many other biological pathways, including cell proliferation, cell cycle regulation, and apoptosis. Therefore, mutations in circadian genes could conceivably result in deregulation of these processes and contribute to tumor development, and be markers for susceptibility to human cancer. In this study, we investigated the association between an exonic length variation in a circadian gene, Period3 (Per3), and breast cancer risk using blood samples collected from a recently completed breast cancer case-control study in Connecticut. There were 389 Caucasian cases and 432 Caucasian controls included in our analysis. We found that the variant Per3 genotype (heterozygous + homozygous 5-repeat alleles) was associated with an increased risk of breast cancer among premenopausal women (odds ratio, 1.7; 95% confidence interval, 1.0-3.0). Our finding suggests that the circadian genes might be a novel panel of potential biomarkers for breast cancer and worth further investigation.

Adult↗
PubMed1989

[Study on structural variation of nucleolar organizer regions (NOR) and the satellite association (SA)].

To further illustrate the biological significance of variant NOR (including double NOR--dNOR and triple NOR--tNOR) and satellite association (SA) and the relationship to meiotic non-disjunction (NDJ), this study was carried out in the normal population and the parents of patients with Down Syndrome (DS). Of 800 individuals, 4 dNOR carriers, two of them from the control and two from the non-informative experiments were detected. SA data for 3 out of the 4 dNOR carriers showed no statistical significant increase in SA when dNOR was present in the cell even in case 4 where two dNOR were found in one cell. However, ease 3 demonstrated significant decrease in SA when dNOR was present, although it showed that the overall incidence of dNOR was higher in this carrier than that in the other three. It is concluded that dNOR can be detected on any acrocentric chromosome and not be related to NDJ of chromosome, which is a heritable variant that does not affect phenotype and that there are two kinds of dNOR variants, one being from the translocation of the short arm of acrocentric chromosome, the other from non-translocation.

Adult↗
PubMed1989

Structural variations and growth potential of Yersinia enterocolitica under different culture conditions.

The growth potential and the polypeptide composition of Yersinia enterocolitica serotype 0:3 isolated from patients with uncomplicated diarrhoea, reactive arthritis or septicemia were evaluated under different culture conditions. The expression of polypeptides varied with presence of the virulence-associated 40-48 Mdal plasmid, growth medium, growth temperature and gas composition of the culture (air, carbon dioxide, oxygen). Also the initial growth medium at 26 degrees C, before temperature shift to 37 degrees C, influenced the subsequent growth potential and expression of polypeptides. The plasmid encoded at least 7 polypeptides. This plasmid also inhibited the multiplication of bacteria under defined culture conditions. The dominating plasmid-encoded polypeptides were optimally expressed in air or oxygen-supplemented growth medium. The majority of the chromosomally encoded polypeptides were expressed independently of presence of the plasmid, whereas the expression of at least 8 were repressed by the plasmid. Five chromosomally encoded polypeptides were expressed only in carbon dioxide and five only in oxygen environment. These results indicate that Y. enterocolitica may express different molecules in different environments in vivo. This may be of importance for host-parasite relationship and immune response.

Bacterial Proteins↗
PubMed1979

Genetic mapping of the locus controlling structural variations of murine C3 in the chromosome 17.

Backcross progeny, (NC X TF/GnLe)F1 X TF/GnLe, was tested for C3 allotype controlled by C3-1 and the expression of mutant gene tf, repeated loss and regrowth of hair. The recombination frequency between these two loci both located in chromosome 17 of the mouse was 24%. Taken together with our previous linkage data, C3-1 is now localized to a position 11 cm more distal than H-2 on chromosome 17.

Animals↗