Functional confirmation of PLAG1 as the candidate causative gene underlying major pleiotropic effects on body weight and milk characteristics
SCIENTIFIC REPORTS
Authors: Fink, Tania; Tiplady, Kathryn; Lopdell, Thomas; Johnson, Thomas; Snell, Russell G.; Spelman, Richard J.; Davis, Stephen R.; Littlejohn, Mathew D.
Abstract
A major pleiotropic quantitative trait locus (QTL) located at similar to 25 Mbp on bovine chromosome 14 affects a myriad of growth and developmental traits in Bos taurus and indicus breeds. These QTL have been attributed to two functional variants in the bidirectional promoter of PLAG1 and CHCHD7. Although PLAG1 is a good candidate for mediating these effects, its role remains uncertain given that these variants are also associated with expression of five additional genes at the broader locus. In the current study, we conducted expression QTL (eQTL) mapping of this region using a large, high depth mammary RNAseq dataset representing 375 lactating cows. Here we show that of the seven previously implicated genes, only PLAG1 and LYN are differentially expressed by QTL genotype, and only PLAG1 bears the same association signature of the growth and body weight QTLs. For the first time, we also report significant association of PLAG1 genotype with milk production traits, including milk fat, volume, and protein yield. Collectively, these data strongly suggest PLAG1 as the causative gene underlying this diverse range of traits, and demonstrate new effects for the locus on lactation phenotypes.
Retrovirus uncovers potent collaboration
BLOOD
Authors: Wolff, L
Abstract
Plag1 and Plagl2, identified as Cbfb-MYH11 candidate cooperating genes in genetic screens using retrovirus, are now found to have increased expression in human AML and are individually capable of rapidly producing AML in mice in combination with Cbfb-MYH11.