Search results for "plot"
showing 10 items of 830 documents
Sex chromosomes in vertebrates: XX/XY against ZZ/ZW.
2011
It was noted only recently that the mammalian X/Y sex chromosome system originated late in our therian ancestors. The question is, what makes the X/Y sex chromosome system so special that it has replaced the original Z/W sex chromosome system? Two classes of genes are overrepresented on the X chromosome: sex and reproduction genes and brain-related genes. The X chromosome has acquired bursts of young male-biased genes engaged in sex and reproduction which exemplifies the dynamics of sex chromosome evolution. Brain genes are old genes and display the most conserved transcriptome. The new therian X chromosome was formed by fusion of chromosome building blocks already bearing the highest densi…
Minimum Free Energy Based Evaluation of mRNAs Secondary Structures Constructed by 18 Clinically Significant Exonic Single Nucleotide Polymorphisms (S…
2015
Clinically significant 18 Single Nucleotide Polymorphisms (SNPs) from exon regions of Retinoblastoma gene (RB1) were analyzed to find out the structural variations in mRNAs. Online bioinformatic tools i.e., Vienna RNA, RNAfold were used for secondary structure analysis of mRNAs. Predicted minimum Free Energy Change (MFE) was calculated for mRNAs structures. It has been observed that the average of predicted MFE value from 13 nonsense mutations was higher (0.76 kcal/mol) in comparison to 5 missense mutations. Presumably, 13 nonsense mutations are responsible for Nonsense Mediated mRNA Decay (NMD), therefore, excluded from haplotype analysis. From the statistical analysis all the thermodynami…
Analysis of the Single-Nucleotide Polymorphism in the 5′UTR and Part of Intron I of the Sheep MSTN Gene
2011
The myostatin (MSTN) gene region encompassing the 5′UTR and part of intron I was sequenced in animals of two herds of Latvian Darkhead sheep to extend data on the ovine MSTN gene polymorphism and to provide information useful for local breed conservation. Two and four polymorphic loci were revealed in the 5′UTR and intron I. Four and five local haplotypes were constructed, respectively. The genotyping data obtained and that previously reported for the same genomic region were combined in one dataset for the haplotype analysis. Recombination events were detected between loci (c.−40, c.−37) in the 5′UTR and (c.373+18, c.373+101) and (c.373+101, c.373+241) in intron I. Single-nucleotide polymo…
Forensic validation of Y-chromosome STR polymorphisms in Italy: the GE.F.I. collaborative database
2003
Abstract Haplotype data of 1176 Italian males from 10 regions were obtained as a part of a collaborative validation exercise. Individual data are available at http://www.gefi-forensicDNA.it .
Zur Vaterschaftsplausibilität im HLA-System. Untersuchungen unter Benutzung verschiedener Haplotypfrequenztabellen
1981
Serious discrepancies occur, when different haplotype frequency tables are used for calculating the “EM value” (\(\left( {\lg \frac{Y}{X} + 10} \right)\)) of a mother-child-putative-father-combination (MCPFC). These are due to the different frequencies of low frequent haplotypes. Since the correlation between the haplotype frequencies of two different tables for haplotypes lower than 3.5 X 10-3 may even be negative, it seems justified to calculate the EM values with the minimum haplotype frequency of 1X 10-3. For three haplotype frequency tables (with a respectively adapted number of antigens) the EM value was calculated for all MCPFC of all “full house” cases in which the genotype of fathe…
Cytokine Gene Polymorphisms and Breast Cancer Susceptibility
2006
Human breast cancer (BC) is characterized by a considerable clinical heterogeneity. Steroid hormone receptor expression and growth factor receptor expression have been considered suitable diagnostic and prognostic markers, whereas mutations of oncosuppressor and gatekeeper genes have been found associated with an increased risk for this malignancy. To evaluate the role that polymorphisms of genes involved in the regulation of inflammatory response might play in BC susceptibility, we investigated associations between cytokine functionally relevant polymorphisms in 84 BC patients compared to 110 age- and sex-matched controls. TNF-alpha (-308G/A), TGF-beta1 (+869C/T), IL-10 (-1117G/A; -854C/T;…
Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colour and identification of the putative e allele …
2010
Abstract Sequence of the melanocortin 1 receptor (MC1R) gene (the Extension locus) was obtained from a panel of 73 animals belonging to 9 Italian sheep breeds or populations (Appenninica, Bergamasca, Comisana, Cornigliese-like, Delle Langhe, Massese, Merinizzata Italiana, Sarda and Valle del Belice) with different coat colours. Evaluation of the identified polymorphisms on this phenotype was reported with in silico predictions and comparative approaches within and across breeds and across species. Five novel single nucleotide polymorphisms (SNPs), organized in three haplotypes, were detected. Another haplotype, including the two missense mutations already described for the ED allele, was id…
Localization of MRX82: A new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family
2004
Clinical and molecular studies are reported on a Basque family (MRX82) with nonsyndromic X-linked mental retardation (XLMR) in five affected males. A total of 38 microsatellite markers were typed. The XLMR locus has been linked to DXS8067, DXS1001, DXS425, DXS7877, and DXS1183 with a maximum LOD score of 2.4. The haplotype studies and multipoint linkage analysis suggest a localization of the MRX82 locus to an interval of 7.6 Mb defined by markers DXS6805 and DXS7346, in Xq24 and Xq25, respectively. No gene contained in this interval has been so far associated with nonsyndromic mental retardation, except for GRIA3, disrupted by a balanced translocation in a female patient with bipolar affect…
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution
2005
Previous studies of human Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) established a link between the extant Y-SNP haplogroup distribution and the prehistoric demography of Europe. By contrast, our analysis of seven rapidly evolving Y-chromosomal short tandem repeat loci (Y-STRs) in over 12,700 samples from 91 different locations in Europe reveals a signature of more recent historic events, not previously detected by other genetic markers. Cluster analysis based upon molecular variance yields two clearly identifiable sub-clusters of Western and Eastern European Y-STR haplotypes, and a diverse transition zone in central Europe, where haplotype spectra change more rapidly with longi…
Interleukin-10 promoter polymorphism in sporadic Alzheimer's disease.
2003
Proinflammatory cytokines and acute-phase proteins play an important role in Alzheimer's disease (AD) neurodegeneration, and common polymorphisms of genes controlling their high production have been shown to be associated with AD. Thus, AD patients display a proinflammatory genotype and the control of inflammation might play a protective role in AD development. By sequence-specific probes, we have evaluated the role of anti-inflammatory cytokine interleukin(IL)-10 in AD, by analysing in 132 AD patients and 213 healthy controls the prevalence of three different haplotypes, involving three single-nucleotide polymorphisms (SNPs) at -1082 (G--A), -819 (C--T) and -592 (C--A) nucleotides of IL-10…