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Peter Fraser and colleagues report a genome-wide analysis of transcription interactions involving the globin genes in mouse erythroid cells. They demonstrate that the transcription factor Klf1 mediates preferential co-associations between genes it regulates.
Greg Gibson and colleagues report an analysis of gene expression variation in relation to environmental geography and ethnicity in blood leukocyte samples from individuals in rural and urban southern Morocco. The study determined the contributions of geography and ethnicity to associations between genotypes and transcript abundance.
Mary Carrington and colleagues follow up on an earlier association of a variant upstream of HLA-C to HIV viral load setpoint, showing that this variant is associated with high HLA-C cell surface expression and demonstrating a protective effect of the variant in viral load and disease progression.
Michael Bamshad, Jay Shendure and colleagues report the first application of exome resequencing to identify the cause of a mendelian disorder. They sequenced the exomes of four individuals with Miller syndrome in three independent families and identify mutations in DHODH, a key enzyme in the pyrimidine de novo biosynthesis pathway, as causal for the disorder.
Frank Costantini and colleagues report the identification of the ETS transcription factors, Etv4 and Etv5, as key targets of Ret signaling during kidney branching morphogenesis. Loss of Etv4 and Etv5 function in mice leads to complete failure of kidney development.
Jun Wang and colleagues report the genome sequence of the cucumber. The cucumber genome is the seventh plant genome sequence to be reported and was assembled with a combination of traditional Sanger and next-generation sequencing methods.
Stewart Cole and colleagues report the genome sequence and comparative analyses of Brazilian, Indian, North American and Thai strains of Mycobacterium leprae, the etiologial agent of leprosy. They define 16 sub-types of M. leprae and examine their geographical distribution.
Santhi Ganesh and colleagues report meta-analyses of genome-wide association studies of six erythrocyte traits within the CHARGE consortium, with replication in cohorts of the HaemGen consortium. They report 23 loci associated with a range of clinically relevant red blood cell traits.
Nicole Soranzo and colleagues report a meta-analysis of genome-wide association datasets identifying 22 associations to 8 clinically relevant hematological traits. They also identify a long-range haplotype at 12q24 that includes variants associated with platelet counts as well as coronary artery disease and shows evidence of a selective sweep in Europeans.
Frank Rosenbauer and colleagues show that alternative functional programs of hematopoietic stem cells are governed by gradual differences in the cellular DNA methylation level.
Fernando Rivadeneira and colleagues report findings from a large-scale meta-analysis of genome-wide association studies for bone mineral density. The loci identified in this study map to genes in signaling pathways relevant to bone metabolism and highlight the complex genetic architecture underlying osteoporosis.
Giacomo Cavalli and colleagues report that the polycomb gene polyhomeotic acts as a tumor suppressor in the Drosophila eye by repressing the Notch signaling pathway.
Elaine Fuchs and colleagues present mice conditionally lacking Tcf3 and Tcf4 in the skin and show that they play a role in long-term maintenance and wound repair of both epidermis and hair follicles.
Evan Eichler and colleagues have developed an algorithm called mrFAST to map short, next-generation sequence reads across the genome that allows for the accurate prediction of copy-number variation.
Benjamin Cheyette and colleagues show that mouse Dact1 mutants have posterior malformations arising from impaired morphogenesis of the primitive streak. Their findings suggest a critical role for Dact1 in regulating cell adhesion at the primitive streak by altering levels or distribution of Vangl2 protein at the plasma membrane.
Konrad Hochedlinger and colleagues show that hematopoietic stem and progenitor cells give rise to induced pluripotent stem cells 300 times more efficiently than terminally differentiated B and T lymphocytes, yielding reprogramming efficiencies of up to 27%. These findings identify adult hematopoietic progenitors as an attractive cell type for applications of iPS technology in research and therapy.
Oscar Fernandez-Capetillo and colleagues report a mouse model of the human Seckel syndrome characterized by a deficiency in ATR. The Seckel mice show high levels of replicative stress during embryogenesis, and the adults show premature aging.