M utations in RAPSN, a gene encoding rapsyn, a molecule that clusters acetylcholine receptors at the motor endplate, cause endplate acetylcholine receptor deficiency. Müller and colleagues recently reported that N88K is a frequent mutation in RAPSN. By genotyping 17 mutant K88 chromosomes for two RAPSN polymorphisms (IVS3-11delC and 456T/C) and a microsatellite marker D11S4117 (fig 1A) in 12 pa...

M utations in RAPSN, a gene encoding rapsyn, a molecule that clusters acetylcholine receptors at the motor endplate, cause endplate acetylcholine receptor deficiency. Müller and colleagues recently reported that N88K is a frequent mutation in RAPSN. By genotyping 17 mutant K88 chromosomes for two RAPSN polymorphisms (IVS3-11delC and 456T/C) and a microsatellite marker D11S4117 (fig 1A) in 12 pa...

UNLABELLED PREMISE OF THE STUDY To investigate population genetics, phylogeography, and cultivar origin of Ginkgo biloba, chloroplast microsatellite primers were developed. • METHODS AND RESULTS Twenty-one chloroplast microsatellite markers were identified referring to the two published chloroplast genomes of G. biloba. Polymorphisms were assessed on four natural populations from the two r...

UNLABELLED PREMISE OF THE STUDY A set of microsatellite markers were developed to characterize the level of genetic diversity and gene flow in two plant species endemic to the Qinghai-Tibet Plateau, Spiraea alpina and S. mongolica. • METHODS AND RESULTS Using the Fast Isolation by AFLP of Sequences COntaining repeats (FIASCO) method, 16 microsatellite loci showed polymorphisms in both spec...

Twelve nuclear microsatellite primers (nSSR) were developed for the endangered species Abies pinsapo Boiss. to enable the study of gene flow and genetic structure in the remaining distribution areas. Microsatellite primers were developed using next-generation sequencing (454) data from a single Abies pinsapo individual. Primers were applied to thirty individuals from the three extant localities...

Non syndromic cleft lip and/or palate (NSCLP) is a complex congenital anomaly with varying incidence among patients of different geographical origins. Multiple contributing factors are known to trigger the cleft formation. There are several genes involved in the aetiology of NSCLP and they are different in different populations. The genetic components of clefts that underlie the susceptibility ...

Chromosomal polymorphisms, such as inversions, are presumably involved in the rapid adaptation of populations to local environmental conditions. Reduced recombination between alternative arrangements in heterozygotes may protect sets of locally adapted genes, promoting ecological divergence and potentially leading to reproductive isolation and speciation. Through a comparative analysis of chrom...

BACKGROUND Numerous studies suggest that inflammation plays a key role in suicidal behavior. Macrophage migration inhibitory factor (MIF), a proinflammatory cytokine, has received increasing attention in depression research. However, no study has investigated whether MIF has genetic involvement in completed suicide. In this study, we sought to explore the relationship between two functional pol...

In adult mammals, CDX2 acts as a transcription factor and is expressed in intestinal epithelial cells. Down-regulation of CDX2 is frequently observed in colorectal cancer, suggesting its loss may cause dedifferentiation of gastrointestinal epithelial cells. However, it is not clear whether inherited variants of CDX2 are associated with risk of colorectal cancer. Using epidemiologic data and tum...