Anton Verkerk

TL;DR: It is shown that mice lacking the Cry1 or Cry2 protein display accelerated and delayed free-running periodicity of locomotor activity, respectively, which suggests that, in addition to a possible photoreceptor and antagonistic clock-adjusting function, both proteins are essential for the maintenance of circadian rhythmicity.

TL;DR: The results suggest that mutations in FMR–1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.

TL;DR: The nature and function of the protein encoded by the FMR-1 gene is investigated using polyclonal antibodies raised against the predicted amino-acid sequences and four different protein products, possibly resulting from alternative splicing, have been identified by immunoblotting in lymphoblastoid cell lines of healthy individuals.

TL;DR: Study of FMR–1 in sperm of four male fragile X patients showed that only the premutation was present in their sperm, although they had a full mutation in peripheral lymphocytes, which might suggest that expansion of the premutations to the full mutations in FMR-1 does not occur in meiosis but in a postzygotic stage.

TL;DR: PCR and sequence analysis of chromosomes from the general population indicates that the repeat is polymorphic (6 to 29 triplets), and is stable upon transmission.