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This Week in PLOS: Dec 21, 2015

In PLOS Genetics, a University of Hawaii-led team traces an inherited cancer syndrome in four apparently unrelated families from different parts of the US back to a German couple born in the 1700s. Based on genotyping profiles for affected members of each family, coupled with genealogical data and publicly available genotyping and sequencing data for thousands of individuals, the team demonstrated that the patients were distantly related and shared an identical mutation in the BRCA1-associated protein 1, or BAP1 gene, leading to a predisposition to early onset mesothelioma, uveal melanoma, and other cancers. Moreover, that version of the BAP1 cancer syndrome appears to have arisen in a German couple that immigrated to the US, had 10 or more children, and now has at least 80,000 descendants. GenomeWeb has more on the study, here.

Researchers from the US and Italy relied on a so-called informed genome-wide association study approach to identify loci involved in exceptional longevity for another PLOS Genetics paper. Using clues from prior meta-analyses of GWAS on 14 age-related traits and diseases, the team analyzed genotyping data for thousands of very elderly individuals from the New England Centenarian Study and the 90Plus study as well as control individuals. The search led to four loci with significant ties to extreme longevity, including a region in and around the APOE/TOMM40 that's been implicated in past longevity studies. GenomeWeb has additional details on the research. 

A team from the US and Denmark describes gene expression changes it detected in pregnant women with or without rheumatoid arthritis before and during pregnancy. As they report in PLOS One, the researchers did RNA sequencing on transcripts in the blood of 20 women with rheumatoid arthritis and five unaffected controls prior to pregnancy and during each trimester, identifying genes with enhanced or diminished expression in those with rheumatoid arthritis as well as genes enriched during expression in general. "Our findings support the hypothesis that the maternal immune system plays an active role during pregnancy," the study's authors write, "and also provide insight into other systemic changes that occur in the maternal transcriptome during pregnancy compared to the pre-pregnancy state."