Search results for "Genetic algorithm"
showing 10 items of 834 documents
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions
2017
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats. To examine the apparent contradiction of unstable, interruption-positive SCA10 e…
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis
2020
Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 interm…
Pressure to drink but not to smoke: Disentangling selection and socialization in adolescent peer networks and peer groups
2010
Contains fulltext : 90699.pdf (Publisher’s version ) (Closed access) This paper examined the relative influence of selection and socialization on alcohol and tobacco use in adolescent peer networks and peer groups. The sample included 1419 Finnish secondary education students (690 males and 729 females, mean age 16 years at the outset) from nine schools. Participants identified three school friends and described their alcohol and tobacco use on two occasions one year apart. Actor-based models simultaneously examined changes in peer network ties and changes in individual behaviors for all participants within each school. Multi-level analyses examined changes in individual behaviors for adole…
Retroelements: tools for sex chromosome evolution
2003
Many eukaryotic taxa inherit a heteromorphic sex chromosome pair. It is a generally accepted hypothesis that the sex chromosome pair is derived from a pair of homologous autosomes that has developed after the occurrence of a sex differentiator in an evolutionary process into two structurally and functionally different partners. In most of the analyzed systems the occurrence of the dominant sex differentiator is paralleled by the suppression of recombination within and close by that region. The recombinational isolation can spread in an evolutionary selection process from neighboring regions finally over the whole chromosome. Suppression of recombination strongly biases the distribution of r…
Incentive and Selection Effects of Medigap Insurance on Inpatient Care
2012
The Medicare program, which provides insurance coverage to the elderly in the United States, does not protect them fully against high out-of-pocket costs. For this reason private supplementary insurance, named Medigap, has been available to cover Medicare gaps. This paper studies how Medigap affects the utilization of inpatient care, separating the incentive and selection effects of supplementary insurance. For this purpose, we use two alternative estimation methods: a standard recursive bivariate probit and a discrete multivariate finite mixture model. We find that estimated incentive effects are modest and quite similar across models. On the other hand, there seems to be very significant …
Raiders from the sky: slavemaker founding queens select for aggressive host colonies.
2012
Reciprocal selection pressures in host–parasite systems drive coevolutionary arms races that lead to advanced adaptations in both opponents. In the interactions between social parasites and their hosts, aggression is one of the major behavioural traits under selection. In a field manipulation, we aimed to disentangle the impact of slavemaking ants and nest density on aggression of Temnothorax longispinosus ants. An early slavemaker mating flight provided us with the unique opportunity to study the influence of host aggression and demography on founding decisions and success. We discovered that parasite queens avoided colony foundation in parasitized areas and were able to capture more broo…
Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?
2007
Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…
MPL mutation effect on JAK2 46/1 haplotype frequency in JAK2V617F-negative myeloproliferative neoplasms
2010
MPL mutation effect on JAK2 46/1 haplotype frequency in JAK2 V617F-negative myeloproliferative neoplasms
Intergenerational transmission of the positive effects of physical exercise on brain and cognition
2019
Physical exercise has positive effects on cognition, but very little is known about the inheritance of these effects to sedentary offspring and the mechanisms involved. Here, we use a patrilineal design in mice to test the transmission of effects from the same father (before or after training) and from different fathers to compare sedentary- and runner-father progenies. Behavioral, stereological, and whole-genome sequence analyses reveal that paternal cognition improvement is inherited by the offspring, along with increased adult neurogenesis, greater mitochondrial citrate synthase activity, and modulation of the adult hippocampal gene expression profile. These results demonstrate the inher…
THE INTENSITY OF SEXUAL SELECTION PREDICTS WEAPON SIZE IN MALE BOVIDS
2007
As a classical example of a sexually selected trait, the horns of male bovids offer a prime opportunity to identify predictors of the intensity of sexual selection. Here I use the comparative method to quantify sexual and natural selection pressures behind interspecific variation in horn length. I show that male horn length depends on factors proposed to affect the mean mate number per mating male, correlating positively with group size and negatively with male territoriality. This suggests that whereas group size increases the opportunity for sexual selection, territoriality reduces it because territorial males are unable to follow and monopolize female groups as effectively as males in no…