Published in Nature's early online edition, researchers at Memorial Sloan-Kettering Cancer Center led by Joan Massagué have found genes that control breast cancer metastasis to the brain. The BBC reports on it here. Performing gene expression analysis on cells that preferentially infiltrate the brain from patients with advanced disease, they found the cyclooxygenase COX2, the EGFR ligand HBEGF, and the alpha2,6-sialyltransferase ST6GALNAC5 as "mediators of cancer cell passage through the blood-brain barrier," they write in the abstract.
Also in early online this week, scientists used mutation screening to study diffuse large B-cell lymphoma (DLBCL), the most common form of lymphoma in adulthood. To see whether constitutive NF-kappaB activation in ABC-DLBCL represents a "primary pathogenetic event or reflects the intrinsic program of the tumour cell of origin," they screened for mutations in 31 NF-kappaB-pathway genes in 14 samples. They found that greater than 50 percent of ABC-DLBCL carry somatic mutations in multiple genes, with the negative regulator, A20, most commonly affected. Another study used a GWAS of genetic lesions in 238 B-cell lymphomas to show that A20 is a common genetic target in B-lineage lymphomas.
In the current issue, UCSD's Bing Ren led work that used ChIP-chip to study the role of human promoters, enhancers, and insulators in multiple cell types in cell-type-specific gene expression. He and his team found that the chromatin state at promoters doesn't really vary across different cell types, but that enhancers are "marked with highly cell-type-specific histone modification patterns, strongly correlate to cell-type-specific gene expression programs on a global scale, and are functionally active in a cell-type-specific manner."
In a paper published in the early online edition of Nature Genetics, a team found a novel gene, SLC25A38, to be associated with a rare form of severe anemia called congenital sideroblastic anemia (CSA). The study was led by Université of Montréal's Mark Samuels and is part of the Atlantic Medical Genetics and Genomics Initiative, a gene-discovery project funded by Genome Canada/Genome Atlantic, Capital Health, IWK Health Centre, Dalhousie University, Nova Scotia Research Innovation Trust, Dalhousie Medical Research Fund, Nova Scotia Health Research Foundation, and others.