Towards germline gene therapy of inherited mitochondrial diseases

Tachibana, M. et al. Nature doi:10.1038/nature11647 (24 October).

The authors assessed the feasibility of mitochondrial DNA replacement in human oocytes by spindle transfer, finding that the treated oocytes had a similar fertilization rate to control oocytes. Although over half the spindle transfer zygotes showed abnormal fertilization, the normally fertilized spindle transfer zygotes could develop to blastocysts and produce embryonic stem cells.

MyomiR-133 regulates brown fat differentiation through Prdm16

Trajkovski, M. et al. Nat. Cell. Biol. doi:10.1038/ncb2612 (11 November).

This study identifies miRNA-133 as a negative regulator of PRDM16, which is important for the differentiation of brown adipocytes. The authors showed that after mice were subjected to cold exposure, miRNA-133 is downregulated in brown fat and subcutaneous white adipose due to decreased expression of its transcriptional regulator Mef2.

The genetic landscape of mutations in Burkitt lymphoma

Love, C. et al. Nat. Genet. doi:10.1038/ng.2468 (11 November).

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

Richter, J. et al. Nat. Genet. doi:10.1038/ng.2469 (11 November).

Two groups identify a number of genes recurrently mutated in Burkitt lymphoma using comprehensive sequencing approaches. Both studies highlighted ID3 as a frequently mutated gene in the lymphomas they analyzed. Mutations in ID3 were shown to promote cell cycle progression and proliferation, and it may be a putative tumor suppressor gene.

The CD46-Jagged1 interaction is critical for human T H 1 immunity

Le Friec, G. et al. Nat. Immunol. doi:10.1038/ni.2454 (21 October).

The authors identify the Notch family member Jagged1 as a ligand for the complement regulator CD46. They show that disruption of the CD46–Jagged1 interaction reduces induction of T helper type 1 (TH1) cells. Moreover, patients with Alagille syndrome, who have mutations in the gene encoding Jagged1, and people with CD46 mutations both show an impaired TH1 response.