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Identification and characterization of a spinal muscular atrophy-determining gene
TLDR
The inverted duplication of a 500 kb element in normal chromosomes is described and the critical region is narrowed to 140 kb within the telomeric region, suggesting that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene.
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
TLDR
Two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH are reported, a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype
TLDR
Genome analysis provides a greatly improved fish gene catalogue, including identifying key genes previously thought to be absent in fish, and reconstructs much of the evolutionary history of ancient and recent chromosome rearrangements leading to the modern human karyotype.
Structure and function of the global ocean microbiome
TLDR
This work identifies ocean microbial core functionality and reveals that >73% of its abundance is shared with the human gut microbiome despite the physicochemical differences between these two ecosystems.
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
TLDR
The characterization of the human Notch3 gene, which was previously mapped to the CADASIL critical region, is reported, indicating that Notch 3 could be the defective protein in CADASil patients.
Shifting the limits in wheat research and breeding using a fully annotated reference genome
TLDR
This annotated reference sequence of wheat is a resource that can now drive disruptive innovation in wheat improvement, as this community resource establishes the foundation for accelerating wheat research and application through improved understanding of wheat biology and genomics-assisted breeding.
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
TLDR
The sequence homologies and putative subcellular localization of spastin suggest that this ATPase is involved in the assembly or function of nuclear protein complexes.
Genome evolution across 1,011 Saccharomyces cerevisiae isolates
TLDR
Whole-genome sequencing and phenotyping of 1,011 natural isolates of the yeast Saccharomyces cerevisiae reveal its evolutionary history, including a single out-of-China origin and multiple domestication events, and provides a framework for genotype–phenotype studies in this model organism.
A multi-locus time-calibrated phylogeny of the brown algae (Heterokonta, Ochrophyta, Phaeophyceae): Investigating the evolutionary nature of the "brown algal crown radiation".
TLDR
Using Bayesian relaxed molecular clock analysis, it is shown that the BACR is likely to represent a gradual diversification spanning most of the Lower Cretaceous rather than a sudden radiation.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
TLDR
It is established here that loss- of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation inFGFR1 has been shown to cause a form of craniosynostosis and suggested that the KAL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling.
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