Volume 42 Issue 6, June 2010

Two studies describe how regulatory variation at the rice gene OsSPL14 can lead to altered plant morphology and improve grain yield. These studies support the possibility of improving rice yield through changing plant architecture.

A new study reports the whole-genome sequences of 21 Mycobacterium tuberculosis complex strains, selected to represent geographically diverse isolates. Comparative genomic analyses identify surprising conservation of epitopes recognized by human T cells.

A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability.

Joris Veltman and colleagues apply exome sequencing to identify heterozygous de novo mutations in SETBP1 as the cause of Schinzel-Giedion syndrome, a rare sporadic disorder characterized by severe intellectual disability and multiple congenital malformations.

Cheryl Shoubridge and Jozef Gecz and colleagues report the identification of mutations in IQSEC2, a guanine nucleotide exchange factor for ARF GTPases, in individuals with non-syndromic intellectual disability.

Gudrun Rappold and colleagues report the identification of de novo deletions in SHANK2 in two unrelated individuals. One individual was diagnosed with autism spectrum disorder and the other with mental retardation. The authors also identified a de novo nonsense mutation in an individual diagnosed with autism spectrum disorder.

Richard Houlston and colleagues report a new risk locus for childhood acute lymphoblastic leukemia. The associated variant is located in the CDKN2A gene at chromosome 9p21.

Francesco Cucca and colleagues perform a genome-wide association study for multiple sclerosis in Sardinians. The authors identify variants within CBLB that are associated with MS.

Sebastien Gagneux and colleagues report the genome sequences of 21 phylogeographically diverse Mycobacterium tuberculosis complex strains. Analysis of the global genetic diversity of these strains showed that most of the known human T cell epitopes were highly conserved.

Douglas Easton and colleagues report a genome-wide association study for breast cancer, identifying five new susceptibility loci.

Eli Stahl and colleagues report results of a genome-wide association study meta-analysis and replication study for rheumatoid arthritis. Their work identifies several new risk loci and highlights genetic overlap with other autoimmune diseases.

Yuta Kochi and colleagues identify a regulatory variant in CCR6 associated with susceptibility to rheumatoid arthritis. CCR6 encodes a chemokine receptor expressed on a subset of helper T cells known as Th17 cells, suggesting a possible role for CCR6 in Th17-driven autoimmunity.

Stuart Ralston and colleagues report results of a genome-wide association study for Paget's disease of bone. Their work identifies common variants at three loci associated with risk of this disease.

Terri Beaty and colleagues report a genome-wide association study of cleft lip with/without cleft palate. They identified variants near MAFB and ABCA4 associated with risk of this birth defect in case-parent trios of European and Asian ancestry.

Jan Cools and colleagues identify deletions in PTPN2 in T-cell acute lymphoblastic leukemia. Inactivation of PTPN2 leads to an increase in cell proliferation in mouse T-ALL cells.

Kevin Campbell and colleagues isolate DNA from extinct woolly mammoths and resurrect mammoth hemoglobin. The authors identify three amino acid substitutions that reduce the energetic requirements of heme deoxygenation, which may have played a role in the adaptation of the woolly mammoth from tropical to arctic environments.

Jiayang Li and colleagues report the positional cloning of the Ideal Plant Architecture (IPA1) QTL in rice. The gene OsSPL14 underlies the IPA1 locus and regulates plant architecture and enhances rice grain yield.

Motoyuki Ashikari and colleagues report the identification of OsSPL14 as a gene that regulates plant architecture in rice. OsSPL14 is regulated by miRNA156, promotes panicle branching and enhances rice grain yield.