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91.
92.

Background

The absence of horns, called polled phenotype, is the favored trait in modern cattle husbandry. To date, polled cattle are obtained primarily by dehorning calves. Dehorning is a practice that raises animal welfare issues, which can be addressed by selecting for genetically hornless cattle. In the past 20 years, there have been many studies worldwide to identify unique genetic markers in complete association with the polled trait in cattle and recently, two different alleles at the POLLED locus, both resulting in the absence of horns, were reported: (1) the Celtic allele, which is responsible for the polled phenotype in most breeds and for which a single candidate mutation was detected and (2) the Friesian allele, which is responsible for the polled phenotype predominantly in the Holstein-Friesian breed and in a few other breeds, but for which five candidate mutations were identified in a 260-kb haplotype. Further studies based on genome-wide sequencing and high-density SNP (single nucleotide polymorphism) genotyping confirmed the existence of the Celtic and Friesian variants and narrowed down the causal Friesian haplotype to an interval of 145 kb.

Results

Almost 6000 animals were genetically tested for the polled trait and we detected a recombinant animal which enabled us to reduce the Friesian POLLED haplotype to a single causal mutation, namely a 80-kb duplication. Moreover, our results clearly disagree with the recently reported perfect co-segregation of the POLLED mutation and a SNP at position 1 390 292 bp on bovine chromosome 1 in the Holstein-Friesian population.

Conclusion

We conclude that the 80-kb duplication, as the only remaining variant within the shortened Friesian haplotype, represents the most likely causal mutation for the polled phenotype of Friesian origin.  相似文献   
93.
The golden jackal, widely distributed in Europe, Asia and Africa, is one of the less studied carnivores in the world and the genetic structure of the European populations is unknown. In the last century jackals strongly declined mainly due to human persecution, but recently they expanded again in eastern Europe. With the aim to determine the genetic structure and the origin of expanding jackals, we analyzed population samples obtained from Bulgaria, Serbia, Croatia (Dalmatia and Slavonia) and individuals sampled in north-eastern Italy. Samples were typed at the hypervariable part of the mitochondrial DNA control-region (mtDNA CR1) and at 15 canine autosomal microsatellite loci (STR), and analyzed using multivariate, Bayesian and landscape genetic methods. The mtDNA CR1 was monomorphic, showing a single haplotype shared among all the populations. The STR loci were variable, with 2–14 alleles and intermediate values of heterozygosity (Ho = 0.47; He = 0.51). Genetic diversity was significantly partitioned (θST = 0.07; P < 0.001) and the populations were partially distinct, perhaps in consequence of recent fragmentations. Jackals from Dalmatia were the most genetically differentiated. Assignment testing and gene flow analyses suggested that jackals colonizing Italy have admixed origins from Dalmatian and Slavonian populations. They are not first generation migrants, suggesting that dispersal towards north-eastern Italy is a stepping-stone process. Golden jackal and wolf colonization patterns might be different, with prevalent short-distance dispersal in jackals versus prevalent long distance dispersal in wolves. The admixed origin of jackals in the Alps ensures abundant genetic variability, which may enhance adaptive fitness and expectancy of population growth. The intersections between Dinaric–Balkan and Eastern Alps are areas of population expansion and admixture, highlighting their conservation, ecological and evolutionary values.  相似文献   
94.
InterPro, an integrated documentation resource of protein families, domains and functional sites, was created in 1999 as a means of amalgamating the major protein signature databases into one comprehensive resource. PROSITE, Pfam, PRINTS, ProDom, SMART and TIGRFAMs have been manually integrated and curated and are available in InterPro for text- and sequence-based searching. The results are provided in a single format that rationalises the results that would be obtained by searching the member databases individually. The latest release of InterPro contains 5629 entries describing 4280 families, 1239 domains, 95 repeats and 15 post-translational modifications. Currently, the combined signatures in InterPro cover more than 74% of all proteins in SWISS-PROT and TrEMBL, an increase of nearly 15% since the inception of InterPro. New features of the database include improved searching capabilities and enhanced graphical user interfaces for visualisation of the data. The database is available via a webserver (http://www.ebi.ac.uk/interpro) and anonymous FTP (ftp://ftp.ebi.ac.uk/pub/databases/interpro).  相似文献   
95.
A growing number of inconsistencies have accumulated within the genetically deterministic paradigm of the origin of cancer. Among them the most important are the nonspecific nature of cancer mutations and the non-cell-autonomous factors of cancer initiation and progression. Epigenetic aspects of cancer and cancer systems biology represent novel approaches to cancer aetiology and converge in the notion that cancer is characterized by a nonspecific progressive destabilization of multiple molecular pathways. The coherent behaviour of certain cellular subsystems has been theoretically predicted for a long time to have a general role in coordinating biological processes. However, it has only recently gained major scientific interest when it was measured on photosynthetic complexes at physiological temperatures and confirmed to have a direct effect over the dynamics of the energy transfer. Several theoretical and experimental considerations suggest that cancer might be associated with the absence or impairment of the proper coherent dynamics in certain biological structures, most notably in the microtubules. We review those models and suggest that impaired coherence might largely contribute to the progressive destabilization of the molecular and gene regulatory networks, thus connecting different non-genetic aspects of cancer.  相似文献   
96.
The evolutionary conserved Mre11/Rad50/Nbs1 complex functions as one of the guardians of genome integrity in eukaryotes; it is required for the double-strand break repair, meiosis, DNA checkpoint, and telomere maintenance. To better understand the role of the MRE11 gene in Arabidopsis, we performed comparative analysis of several mre11 alleles with respect to genome stability and meiosis. The mre11-4 and mre11-2 alleles presumably produce truncated MRE11 proteins composed of the first 499 and 529 amino acids, respectively. Although the putative MRE11 truncated proteins differ only by 30 amino acids, the mutants exhibited strikingly different phenotypes in regards to growth morphology, genome stability and meiosis. While the mre11-2 mutants are fully fertile and undergo normal meiosis, the mre11-4 plants are sterile due to aberrant repair of meiotic DNA breaks. Structural homology analysis suggests that the T-DNA insertion in the mre11-4 allele probably disrupted the putative RAD50 interaction and/or homodimerization domain, which is assumed to be preserved in mre11-2 allele. Intriguingly, introgression of the atm-2 mutant plant into the mre11-2 background renders the double mutant infertile, a phenotype not observed in either parent line. This data indicate that MRE11 partially compensates for ATM deficiency in meiosis of Arabidopsis.  相似文献   
97.
Determination of anti-citrullinated peptides (anti-CCP) specificity as a predictor of joint erosive changes, correlation between their serum level and radiological damages as well as disease activity score (DAS28). A trial has been conducted on a 211 patient sample fulfilling ACR criteria for rheumatoid arthritis (RA). There was assigned anti-CCP serum level, disease activity score by the formula for DAS28(3)-CRP and assessed radiological changes degree after Steinbrocker score. In 132 patient (62.559%) the serum anti-CCP concentration was positive for RA. Specificity of the test was 100% and sensitivity 65% (Z = 0.731, p = 0.465). There is a medium intensity correlation between variables representing anti-CCP and Steinbrocker score. Pearson's coefficient was 0.479 and Spearman's rank correlation coefficient was 0.614, i.e. statistically significant (p = 0.000). There is no statistically significant correlation between variables representing anti-CCP and DAS28(3)-CRP Anti-CCP are good RA predictor and their concentration correlate with radiological damages degree.  相似文献   
98.
The aim of the study was to assess the role of fruit drinks in daily diet of Osijek inhabitants. A special questionnaire was administered to 199 patients visiting a family physician's office during December 2003. The concentration of vitamin C (L-ascorbic acid) was determined in 42 commercially available fruit drinks. Only 11% (22/199) of study subjects did not take fruit drinks. The mean concentration of vitamin C in all samples was 150.10 +/- 166.83 mg/L. The questionnaire revealed that 89% (177/199) of study subjects using fruit drinks were taking a mean of 0.4 L of fruit drink per day, yielding a mean of 60.04 mg of vitamin C, i.e. 100% of the recommended daily allowance of 60 mg. Study results indicated fruit drinks to be a significant source of vitamin C in daily diet, however, great variation in vitamin C intake according to socioeconomic status of study subjects and type of fruit drink should be noted.  相似文献   
99.
A population genetic analysis based on sequences of the mitochondrial control region in 110 red foxes from five sampling localities in northern Serbia was carried out. The analysis yielded nine different haplotypes. Neither haplotype phylogeny nor their distribution was in accordance with the geographic location of the populations. In particular, the data failed to detect an unequivocal influence of the two big rivers, the Danube and the Tisza, separating the populations studied. Population differentiation was altogether low, without any relationship to the rivers as possible migration barriers. Although the possibility of foxes crossing the rivers over bridges or by swimming, thus keeping up gene flow, cannot be ruled out, it is most probable that the control region sequences are not sensitive enough to resolve small-scale population relationships but rather show patterns determined by stochastic processes such as genetic drift or lineage sorting.  相似文献   
100.
Journal of Physiology and Biochemistry - In aging, the capacity of subcutaneous adipose tissue (SAT) to store lipids decreases and this results in metabolically unfavorable fat redistribution....  相似文献   
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