The great demographic pressure brings tremendous volume of beef demand. The key to solve this problem is the growth and development of Chinese cattle. In order to find molecular markers conducive to the growth and development of Chinese cattle, sequencing was used to determine the position of copy number variations (CNVs), bioinformatics analysis was used to predict the function of ZNF146 gene, real-time fluorescent quantitative polymerase chain reaction (qPCR) was used for CNV genotyping and one-way analysis of variance was used for association analysis. The results showed that there exists CNV in Chr 18: 47225201-47229600 (5.0.1 version) of ZNF146 gene through the early sequencing results in the laboratory and predicted ZNF146 gene was expressed in liver, skeletal muscle and breast cells, and was amplified or overexpressed in pancreatic cancer, which promoted the development of tumour through bioinformatics. Therefore, it is predicted that ZNF146 gene affects the proliferation of muscle cells, and then affects the growth and development of cattle. Furthermore, CNV genotyping of ZNF146 gene was three types (deletion type, normal type and duplication type) by Real-time fluorescent quantitative PCR (qPCR). The association analysis results showed that ZNF146-CNV was significantly correlated with rump length of Qinchuan cattle, hucklebone width of Jiaxian red cattle and heart girth of Yunling cattle. From the above results, ZNF146-CNV had a significant effect on growth traits, which provided an important candidate molecular marker for growth and development of Chinese cattle.

De nombreuses études ont affirmé l’association significative des Copy Number Variants (CNVs) aux troubles psychotiques et de l’humeur, remettant en question l’hypothèse « maladie commune-variants communs » pour un modèle « maladie commune-variants rares » [1]. Par ailleurs, plusieurs études ont montré l’association de même CNVs à des pathologies différentes telles que l’autisme, le trouble bipolaire, le retard mental ou l’épilepsie, ce qui suggère un effet pléiotropique de ces mutations qui pourrait conduire à reconsidérer la nosologie actuelle. Enfin, certains de ces CNVs apparaîtraient de novo, mais il existe peu d’études familiales, et aucune effectuée sur des pedigrees étendus pour préciser les relations génotype-phénotype au sein des familles [2]. Dans ce travail nous avons étudié une famille consanguine multi-générationnelle et multiplexe pour le phénotype de trouble bipolaire de type I et de schizophrénie ; identifiée dans la région de Tlemcen au nord ouest de l’Algérie. Une recherche pangénomique de CNVs utilisant le Kit 44 K Agilent Human Genome CGH Microarray, a été achevée pour quatre sujets dont deux atteints et deux sains. Cette analyse a permis de mettre en évidence la duplication 16p13.33 en position 3863532-3927262 (Hg19), qui présente un caractère de novo chez une patiente, car absente chez ses deux parents. La duplication de la région chromosomique 16p13.3 affectant le gène CREBBP dont la délétion et/ou la mutation est incriminée dans le syndrome de Rubinstein-Taybi est actuellement décrite dans une entité syndromique regroupant dysmorphie de la face, retard mental léger à moyen, croissance normale, arthrogrypose, anomalies orthopédiques des extrémités surtout des mains et des anomalies de développement cardiaque, génital et oculaire [3]. Ce CNV n’a jamais été décrit précédemment dans le phénotype de trouble bipolaire ; dans ce travail nous présentons une nouvelle description génotype-phénotype d’une dup16p13.33 de novo, dans le trouble bipolaire type I.

Studies on the enhancing effects of nicotine on performance are usually pharmacological challenges using deprived male smokers. However, gender may be a factor that influences nicotine/smoking effects upon information processing. We investigated gender differences in contingent negative variation (CNV) amplitude in non-deprived dependent smokers performing a go-no go reaction time paradigm. Female smokers did not differ from female non-smokers in both early and late CNV, whereas male smokers presented greater early and late CNV compared to male non-smokers and an alteration in inhibiting processes responsible for CNV development in the no go condition. Consistent with the evidence of gender differences in nicotine/smoking sensitivity, these preliminary results emphasize the need for taking into account gender in psychophysiological research of nicotine/smoking effects.

Several studies have affirmed the existence of a strong and complex genetic component in the determination of psychotic disorders. However, the genetic architecture of these disorders remains poorly understood. GWAS studies conducted over the past decade have identified some associations to low effect, and the major part of this heritability remains unexplained, thus calling into question the hypothesis of “common disease – common variant” for model involving a large number of rare variants. Family studies of extended pedigrees selected from geographical isolate can be a powerful approach in identifying rare genetic variants of complex diseases such as psychotic disorders. Here, we studied four multigenerational families in which co-exist psychotic and mood disorders and a high rate of consanguinity, identified in the northwest of Algeria. This case-control study aimed to characterize new rare genetic variants responsible for psychosis. These families have received complete clinical and genealogical investigations, genome wide analysis that were performed in the laboratory of medical genetics in the university hospital of Geneva. A genome wide research CNVs using Agilent Human Genome CGH Microarray Kit 44 K, covering 45 subjects including 20 patients and in a control population of 55 individuals. Three CNVs that had never been reported to date have been identified in one of four families and validated by two techniques. It is the dup 4q26, and 16q23.1 del del21q21. These CNVs are transmitted by either parent line, suggesting a cumulative effect on the risk of psychotic disorders. Further analyzes using pan-genomic linkage analysis using GWAS chip (Illumina Human 660 W-Quad v1.0 Breadchip) and complete WES (by GAIIx Illumina/HiSeq 2000) were performed in some related individuals to search other mutations may explain the appearance of the phenotype in this population.

Monozygotic (MZ) twins form an important system for the study of biological plasticity in humans. While MZ twins are generally considered to be genetically identical, a number of studies have emerged that have demonstrated copy-number differences within a twin pair, particularly in those discordant for disease. The rate of autosomal copy-number variation (CNV) discordance within MZ twin pairs was investigated using a population sample of 376 twin pairs genotyped on Illumina Human610-Quad arrays. After CNV calling using both QuantiSNP and PennCNV followed by manual annotation, only a single CNV difference was observed within the MZ twin pairs, being a 130 KB duplication of chromosome 5. Five other potential discordant CNV were called by the software, but excluded based on manual annotation of the regions. It is concluded that large CNV discordance is rare within MZ twin pairs, indicating that any CNV difference found within phenotypically discordant MZ twin pairs has a high probability of containing the causal gene(s) involved.

Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but in neither of their parents. Potential copy number differences between the genomes of the twins were subsequently searched using high-resolution single nucleotide polymorphism (SNP) and comparative genome hybridisation (CGH) arrays. However, these analyses identified no additional aberrations or genomic differences that could potentially be responsible for the subtle phenotypic differences. These could possibly be related to the more severe perinatal history of Twin B, or to the variable expressivity of the disorder. In accord with the expectations, one of the parents (the mother) was shown to carry the H2 haplotype, and the maternal allele of chromosome 17q21.31 was missing in the twins.

We examined changes of event-related potentials (ERPs) while participants learned stimulus-to-stimulus relations in an S1-S2 task. The design allowed for separating processes of associative learning from nonspecific effects. Participants had to respond to S2 by a left or right key-press dependent on S2 identity (letter W or M). Preparation for S2 could be improved by using the associative information given by S1. The S1 was an arrow pointing to the left or right. In combination with its color, arrow direction was informative about location and identity of S2, but participants were not informed about the relevance of color. Arrows in two of the colors were fully predictive for the S2 whereas the third color gave no valid information. This third stimulus controlled for habituation and procedural learning. Six blocks with 200 trials each and all three S1 colors in random order were presented. Behavioral and ERP differences in each block between “learning” and control trials were used to identify processes of associative learning. Several effects of associative learning were identified indicating the involvement of specific stages of information processing: a continuous increase of P3 amplitude evoked by S1 was accompanied by a decrease of P3 evoked by S2. These changes reflected the modifications of stimulus weights for response selection and the strengthened association between the two stimulus complexes in the time course of learning. The related motor preparation benefited from learning too, expressed in a decrease of CNV amplitude and an increase of LRP amplitude. Finally a decrease of N1 amplitude evoked by S2 indicated the reduced need to allocate spatial attention to the S2 location according to the learned meaning of S1.

Identification of the necessary stimulus properties to elicit the stimulus preceding negativity (SPN) has been the impetus for numerous research studies. The current study was conducted to explore the possibility that the SPN is an index of cognitive resource allocation. An auditory warning stimulus (S1) indicated whether an easy or difficult discrimination would occur at S2. The SPN was collected before a nonmotor discrimination task (S2) that consisted of identifying the higher of two bars. To eliminate the influence of motor processing prior to S2, a button press on the side of the higher bar was held until perception of a response cue (S3). Additionally, P3, contingent negative variation (CNV), and behavioral measures were collected to assist in assessing the SPN. Results indicated that although the SPN exhibited increased negativity, no differences were observed based on task difficulty. However, task difficulty did affect P3 data for both the warning tone and the discrimination task, an effect not observed for the CNV. Overall, the data did not support that hypothesis that the SPN provides an index of cognitive demand.

The effects of mental fatigue on planning and preparation for future actions were examined, using a task switching paradigm. Fatigue was induced by “time on task,” with subjects performing a switch task continuously for 2 hr. Subjects had to alternate between tasks on every second trial, so that a new task set was required on every second trial. Manipulations of response–stimulus intervals (RSIs) were used to examine whether subjects prepared themselves for the task change. Behavioral measurements, event-related potentials (ERPs), and mood questionnaires were used to assess the effects of mental fatigue. Reaction times (RTs) were faster on trials in which no change in task set was required in comparison with switch trials, requiring a new task set. Long RSIs were used efficiently to prepare for the processing of subsequent stimuli. With increasing mental fatigue, preparation processes seemed to become less adequate and the number of errors increased. A clear poststimulus parietal negativity was observed on repetition trials, which reduced with time on task. This attention-related component was less pronounced in switch trials; instead, ERPs elicited in switch trials showed a clear frontal negativity. This negativity was also diminished by time on task. ERP differences between repetition and switch trials became smaller with increasing time on task.

Effects of movement advance information were assessed on the prestimulus amplitude of the lateralized readiness potential (LRP), on the contingent negative variation (CNV), and on reaction time (RT). In a precuing paradigm with movement parameters hand, direction, and force, partial precues provided advance information about either hand alone, hand plus force, or hand plus direction, and the full precue specified all response parameters. The full precue produced the shortest RTs and the largest CNV amplitude, precuing hand and force or hand and movement direction produced somewhat slower RTs and a somewhat smaller CNV amplitude, and precuing only hand yielded slowest RTs and the smallest CNV amplitude. In contrast, the LRP amplitude was largest for the full precue and was the same for the remaining precues. The CNV appears to index the central assembling of a motor program, and the LRP represents the implementation of the program at more peripheral levels.

The topography of the postimperative negative variation (PINV) was analyzed in participants with high and low scores on the German version of the Schizotypal Personality Questionnaire. Scalp amplitude and Laplacian maps of the terminal contingent negative variation (tCNV) and PINV and the time course of the PINV were compared between the two groups. CNV and PINV were induced with a delayed matching-to-sample task, in which the pattern of the imperative stimulus was either clearly or ambiguous matched to one of the two diamonds simultaneously presented as a warning stimulus 4.0 s earlier. Electroencephalograms were recorded with a DC amplifier (32 channels). Negativity increased from tCNV to PINV, especially at frontal sites, and the PINV was larger under ambiguous than under clear matching conditions. Low-scoring participants showed a right-sided predominance of the PINV, which was absent in high-scoring participants. These results resemble differences in the topography of the PINV between healthy control participants and those with schizophrenia under identical experimental conditions and suggest functional differences between tCNV and PINV.