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Common gene variants influencing transcript levels can now be reproducibly identified by genome-wide screens. Some of the same variants contribute to clinical traits.
The National Center for Biotechnology Information has created the dbGaP public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them. dbGaP assigns stable, unique identifiers to studies and subsets of information from those studies, including documents, individual phenotypic variables, tables of trait data, sets of genotype data, computed phenotype-genotype associations, and groups of study subjects who have given similar consents for use of their data.
Optimally positioned crossovers facilitate the proper segregation of chromosomes in meiosis. A new study in yeast implicates the spindle checkpoint in the rescue of crossovers that occur too distant from the centromere, possibly shedding light on the origins of nondisjunction in higher organisms.
A new study finds that copy number variation in the salivary amylase gene in humans is associated with amylase concentration in saliva and average starch consumption in populations. This provides a striking example of the role of copy number variants (CNVs) in adaptive evolution, and of diet in producing selective pressures.
MAGEL2 is located in a cluster of imprinted genes on human chromosome 15 that is implicated in Prader-Willi syndrome (PWS). A new study shows that mice deficient for this gene show altered behavioral rhythmicity that resembles some features of PWS.
The growing list of known microRNAs is only as useful as our ability to identify the mRNA targets they control. A new study stresses the role of messenger RNA structure in microRNA target recognition and suggests that binding of the RNA-induced silencing complex is largely controlled by the thermodynamics of RNA-RNA interactions.