Massively parallel resequencing of the isogenic Drosophila melanogaster strain w(1118); iso-2; iso-3 identifies hotspots for mutations in sensory perception genes.

摘要: We used the Illumina reversible-short sequencing technology to obtain 17-fold average depth (s.d. approximately 8) of 94% euchromatic genome and 1-5% heterochromatin sequence Drosophila melanogaster isogenic strain w(1118); iso-2; iso-3. show that this has a 9 kb deletion uncovers first exon white (w) gene, 4 downstream promoter sequences, most intron, thus demonstrating whole-genome can be for mutation characterization. chose because there are thousands transposon insertion lines hundreds deficiency available with genetic background, such as Exelixis, Inc., DrosDEL collections. compared our Release 5 finished reference which was made from y(1); cn(1) bw(1) sp(1) identified 356,614 candidate SNPs in 117 Mb unique genome, represents substitution rate 1/305 nucleotides ( 0.30%). The distribution is not uniform, but rather 2-fold increase on autosome arms X chromosome 7-fold when small 4(th) chromosome. This consistent previous analyses demonstrated correlation between recombination frequency SNP frequency. An unexpected finding hotpot 20 central region chromosome, might indicate higher than expected Interestingly, genes involved sensory perception enriched hotspots encoding developmental coldspots, suggests frequencies proportional evolutionary selection coefficient. There currently 12 species sequenced, one many sequences progress. Because dramatic power using outbred individuals, information should valuable test bed understanding genotype-by-environment interactions human population studies.