1. |
- Barbato, Giuseppe, et al.
(författare)
-
EFFECTS OF PROLONGED WAKEFULNESS : THE ROLE OF PERIOD3 GENOTYPES AND PERSONALITY TRAITS
- 2013
-
Ingår i: Psychological Reports. - : AMMONS SCIENTIFIC, LTD. - 0033-2941 .- 1558-691X. ; 113:2, s. 540-551
-
Tidskriftsartikel (refereegranskat)abstract
- The roles of personality traits, as assessed by Eysenck Personality Inventory, and of the clock gene PERIOD3 (PER3) were analysed on the subjective effects of prolonged wakefulness. A sample of 70 healthy participants (7 men, 63 women; M age = 24.2 yr., SD = 3.2) was studied during forced wakefulness between 7:30 p.m. and 9:30 a.m. According to Eysenck's arousal model, it was hypothesized that prolonged wakefulness might affect in a different way those classified as Introverted and Extraverted. During the forced wakefulness period, the Introverted group showed greater decrease in subjective measures of vigilance than did the Extraverted group, but no differences were observed between groups with high and low scores on Psychoticism and Neuroticism. Prolonged wakefulness had a negative effect on subjective sleepiness and mood in all three PER3 polymorphisms analysed.
|
|
2. |
- Chiesa, Nicoletta, et al.
(författare)
-
The KCNQ1OT1 imprinting control region and non-coding RNA : new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
- 2012
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:1, s. 10-25
-
Tidskriftsartikel (refereegranskat)abstract
- A cluster of imprinted genes at chromosome 11p15.5 is associated with the growth disorders, Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS). The cluster is divided into two domains with independent imprinting control regions (ICRs). We describe two maternal 11p15.5 microduplications with contrasting phenotypes. The first is an inverted and in cis duplication of the entire 11p15.5 cluster associated with the maintenance of genomic imprinting and with the SRS phenotype. The second is a 160 kb duplication also inverted and in cis, but resulting in the imprinting alteration of the centromeric domain. It includes the centromeric ICR (ICR2) and the most 5' 20 kb of the non-coding KCNQ1OT1 gene. Its maternal transmission is associated with ICR2 hypomethylation and the BWS phenotype. By excluding epigenetic mosaicism, cell clones analysis indicated that the two closely located ICR2 sequences resulting from the 160 kb duplication carried discordant DNA methylation on the maternal chromosome and supported the hypothesis that the ICR2 sequence is not sufficient for establishing imprinted methylation and some other property, possibly orientation-dependent, is needed. Furthermore, the 1.2 Mb duplication demonstrated that all features are present for correct imprinting at ICR2 when this is duplicated and inverted within the entire cluster. In the individuals maternally inheriting the 160 kb duplication, ICR2 hypomethylation led to the expression of a truncated KCNQ1OT1 transcript and to down-regulation of CDKN1C. We demonstrated by chromatin RNA immunopurification that the KCNQ1OT1 RNA interacts with chromatin through its most 5' 20 kb sequence, providing a mechanism likely mediating the silencing activity of this long non-coding RNA.
|
|