0000000000174768
AUTHOR
Wendy Chang
The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.
The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared …
Mitochondrial Dna Sequence Variation among Geographic Strains of Diamondback Moth (Lepidoptera: Plutellidae)
We examined genetic variation among 6 geographic strains of diamondback moth, Plutella xylostella (L.), using 365 base pairs of the mitochondrial gene encoding cytochrome oxidase I (COI). No sequence variation was detected within 5 of the 6 strains; 1 strain contained 2 haplotypes that differed by a single base substitution (0.27%). Sequence differences between strains of diamondback moth from Hawaii, the Philippines, and Pennsylvania ranged from 0 to 0.82%. With one exception, base pair substitutions among strains resulted in synonymous codons and did not alter amino acid sequence. Genetic divergence between strains of diamondback moth was not correlated with geographic distances between t…