Search results for "REGION"
showing 10 items of 4910 documents
Functional Significance of Microsatellite Markers
2014
The review summarizes literature data on the positive results of association studies between the length of microsatellite repeats and predisposition to pathologies. Actually, the data can be classified according to the localization of the microsatellite: in the gene promoter, in the part of exon 1 coding the signal sequence, in gene introns, in the coding areas of genes, and in 3'-untranslated regions. The functional significance of microsatellite length changes can be evaluated in many cases. The authors came up to the conclusion that further studies on microsatellite associations with diseases remain prospective as they reflect changes in the gene functional activity.
Candidate Gene and Genome-Wide Association Studies for Circulating Leptin Levels Reveal Population and Sex-Specific Associations in High Cardiovascul…
2019
Leptin is a hormone crucial in the regulation of food intake and body-weight maintenance. However, the genes and gene variants that influence its plasma levels are still not well known. Results of studies investigating polymorphisms in candidate genes have been inconsistent, and, in addition, very few genome-wide association studies (GWAS) have been undertaken. Our aim was to investigate the genes and gene variants most associated with plasma leptin concentrations in a high-cardiovascular-risk Mediterranean population. We measured plasma leptin in 1011 men and women, and analyzed the genetic factors associated using three approaches: (1) Analyzing the single nucleotide polymorphisms (SNPs) …
Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families.
1999
Previously reported linkage of bipolar affective disorder to DNA markers on chromosome 18 was reexamined in a large sample of German bipolar families. Twenty-three short tandem repeat markers were investigated in 57 families containing 103 individuals with bipolar I disorder (BPI), 26 with bipolar II disorder (BPII), nine with schizoaffective disorder of the bipolar type (SA/BP), and 38 individuals with recurrent unipolar depression (UPR). Evidence for linkage was tested with parametric and non-parametric methods under two definitions of the affected phenotype. Analysis of all 57 families revealed no robust evidence for linkage. Following previous reports we performed separate analyses afte…
Data for nine autosomal STRs markers from Valencia (East Mediterranean coast of the Iberian Peninsula)
2000
Nine STRs loci have been typed in a sample from Valencia, a population from the East Mediterranean coast of the Iberian Peninsula.
The human fascin gene promoter is highly active in mature dendritic cells due to a stage-specific enhancer.
2003
Abstract Dendritic cells (DC), regarded as the most efficient APCs of the immune system, are capable of activating naive T cells. Thus, DC are primary targets in immunotherapy. However, little is known about gene regulation in DC, and for efficient transcriptional targeting of human DC, a suitable promoter is still missing. Recently, we successfully used the promoter of the murine actin-bundling protein fascin to transcriptionally target DC by DNA vaccination in mice. In this study, we report on isolation of the human fascin promoter and characterization of its regulatory elements. The actively expressed gene was distinguished from a conserved inactive genomic locus and a continuous region …
Comparative architectural aspects of regions of conserved synteny on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1)
2001
Human chromosome 11p15.3 is associated with chromosome aberrations in the Beckwith Wiedemann Syndrome and implicated in the pathogenesis of different tumor types including lung cancer and leukemias. To date, only single tumor-relevant genes with linkage to this region (e.g. LMO1) have been found suggesting that this region may harbor additional potential disease associated genes. Although this genomic area has been studied for years, the exact order of genes/chromosome markers between D11S572 and the WEE1 gene locus remained unclear. Using the FISH technique and PAC clones of the flanking markers we determined the order of the genomic markers. Based on these clones we established a PAC cont…
Range Shifts of Mouse Lemurs in South-Eastern Madagascar: Evidence from Mitochondrial Genetic Data
2012
The gray mouse lemur, Microcebus murinus, occurs mainly in dry forests in western Madagascar, but its distribution extends into humid littoral forests in the south-eastern Anosy Region. We sequenced the mitochondrial hypervariable region 1 for 282 M. murinus individuals from 13 south-eastern study sites. The spatial distribution of mitochondrial haplotypes and the varying genetic distances within two haplotype clades indicated a trend of decreasing genetic diversity towards the south-eastern margin of the range. Rufous mouse lemurs, Microcebus cf. rufus, have a complementary distribution in south-eastern Madagascar which does not overlap with that of M. murinus. Taken together, the spatial …
Diversity in local cultivars of Pisum sativum collected from home gardens in Sweden
2015
Abstract Although one would assume that finding any local cultivars in home gardens in a modern society such as Sweden is unlikely, such cultivars were in fact found. More than 170 seed accessions of vegetables, pulses and other seed-propagated garden crops maintained in home gardens and dating back at least to the 1950s have been assembled following the nationwide ‘Seed Call’. Of these, 32 garden pea accessions were taxonomically characterized and compared with 43 accessions already present in the gene bank. In addition to morphological descriptors, SSR and retrotransposon-based iPBS markers were applied. Based on five SSR markers, potential duplicates could be located within nine pair/gro…
Genetic Diversity of Mute Swan Population of the Riga Urban Area
2015
Abstract Mute swan Cygnus olor is the most abundant breeding swan species in Rīga and Latvia. Since manmade habitats are the preferred breeding habitats of this species - Cygnus olor is of particular interest in studies of urban biodiversity. The latest records show that 30-40 pairs breed annually in Rīga, 400-700 individuals migrate through the area, and 120-150 individuals stay over winter. The goal of our study was to determine the genetic variation of the mute swan population in Rīga. Blood samples were collected from 47 individual birds found in different sites in Rīga or elsewhere in Latvia. The universal retrotransposon based iPBS markers were used to estimate diversity. Three primer…
Genome-Wide Patterns of Homozygosity Reveal the Conservation Status in Five Italian Goat Populations.
2021
The application of genomic technologies has facilitated the assessment of genomic inbreeding based on single nucleotide polymorphisms (SNPs). In this study, we computed several runs of homozygosity (ROH) parameters to investigate the patterns of homozygosity using Illumina Goat SNP50 in five Italian local populations: Argentata dell’Etna (N = 48), Derivata di Siria (N = 32), Girgentana (N = 59), Maltese (N = 16) and Messinese (N = 22). The ROH results showed well-defined differences among the populations. A total of 3687 ROH segments >