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Mark Samuels and colleagues report the identification of mutations in mitochondrial carrier family member SLC25A38 in nonsyndromic autosomal recessive congenital sideroblastic anemia.
Charles Sawyers and colleagues report that mice expressing a TMPRSS2-ERG fusion develop prostatic intraepithelial neoplasia, but only in the context of PI3-kinase pathway activation mediated by either Pten loss or Akt activation. They also find that human TMPRSS2-ERG–positive tumors are enriched for PTEN loss, suggesting that these two events cooperate in human prostate tumorigenesis.
Andrew Futreal and colleagues report inactivating somatic mutations in the histone lysine demethylase gene UTX in human cancers, including multiple myelomas, esophageal squamous carcinomas, renal clear cell carcinomas, acute and chronic myeloid leukemias, breast and colorectal cancers and glioblastomas, identifying UTX as a new tumor suppressor gene.
Yardena Samuels and colleagues report a mutational analysis of the matrix metalloproteinase gene family in cutaneous metastatic melanoma. They find frequent somatic mutations in MMP8 and present functional evidence that wild-type MMP-8 inhibits melanoma progression.
Stefan Schulte-Merker and colleagues report that ccbe1, a predicted secreted protein, is required for embryonic lymphangiogenesis in zebrafish. Ccbe1 acts at the same stage as Vegfc, and is required for lymphangioblast budding and angiogenic sprouting from the venous endothelium.
John Stamatoyannopoulos, Shamil Sunyaev and colleagues report a correlation between mutation rate and replication timing in the human genome, observing an increased mutation rate in later-replicating regions.
Jeanette Erdmann and colleagues identify a locus on chromosome 3q22.3 associated with coronary artery disease. The SNP with the strongest association is in MRAS, which encodes a membrane-anchored GTP-binding protein.
Using a haplotype-based approach, David-Alexandre Trégouët and colleagues report that the SLC22A3-LPAL2-LPA gene cluster is associated with risk of coronary artery disease.
Kari Stefansson and colleagues report association of a variant in LINGO1 with risk of essential tremor, a common progressive neurological disease. Mice lacking Lingo1 have impaired axonal integrity, which may be relevant to the pathophysiology of the human disease.
Laurie Ozelius and colleagues identify mutations in THAP1 in families with a mixed type (DYT6) of primary torsion dystonia, a movement disorder characterized by twisting movements and abnormal posture.
Ritsert Jansen and colleagues present an integrative analysis for genome-wide variation in transcript, protein and metabolite abundance in Arabidopsis, reporting six QTL hot spots with system-wide effects.
Philippe Froguel and colleauges present a genome-wide association study for early-onset and morbid adult obesity, reporting three new genetic associations to obesity.
Matthew Farrer and colleagues report missense mutations in DCTN1, encoding dynactin, in eight families with Perry syndrome, a neurodegenerative disorder marked by early-onset parkinsonism, depression, severe weight loss and hypoventilation.
Thomas Sander and colleagues identify 15q13.3 microdeletions in 1% of individuals with idiopathic generalized epilepsy (IGE). The majority of these individuals do not show intellectual disability, schizophrenia or other neuropsychiatric phenotypes, thus extending the phenotypic spectrum associated with 15q13.3 microdeletions.