Disease relevance of Vars

• Polymorphic DNA markers within the cloned region were used to map the cleft palate susceptibility-1 (Cps-1) locus to the interval between Hsp70.1 and BAT6 (valyl-tRNA synthetase) [1].
• Random shotgun sequencing of the two Fugu cosmids containing the gene encoding valyl-tRNA synthetase revealed sequences resembling genes encoding tenascin-X, the nuclear antigen A/Ro of Sjogren's syndrome, and the Landsteiner-Wiener blood group glycoprotein [2].

High impact information on Vars

• Using microsatellite markers and sequence-based nucleotide polymorphisms, the breakpoint intervals of 30 recombinants were mapped to a 5-kb-long interval within the G7c gene adjacent to G7a [3].
• To further investigate the connection of mistranslation to cell pathology, we introduced an inducible transgene expressing an editing-deficient valyl-tRNA synthetase into mammalian cells [4].
• DNA sequence analysis of a segment of 15 kb, situated between G7b and G7a and present in the mouse but absent in human, revealed about 11 kb of DNA harboring a large number of repetitive sequences and 4 kb harboring a novel gene, G7e [5].
• We cloned a set of overlapping cosmid clones containing 115 kb of DNA surrounding Bat6 [6].
• Exon trapping has identified a new gene located telomeric of Bat6 [6].

Anatomical context of Vars

• For example, of the valyl-tRNA synthetase activity not associated with ribosomes, 35% and 100% were found to sediment at 18-25 S in Friend leukemia cells and mouse liver respectively [7].

Other interactions of Vars

• Two other genes are located in this critical interval (G7b and G7a/Bat-6), and there might still be other undetected genes present in the region [8].

References