Examination of the four lead locus-significant SNPs revealed only nominal association of the risk G allele of rs10830963 at MTNR1B for T2D risk in the MEDIA consortium (OR = 1.11, P = 0.02) [ 26].
The projection of central orexin nerves in humans leads to locus coeruleus, dorsal raphe nuclei, amygdala, suprachismatic nucleus, basal forebrain, cholinergic brainstem and spinal cord [ 14].
Structural or functional constraints at the protein level can lead to locus-specific selective pressures acting on mitochondrial genomes, giving rise to a higher divergence in some PCGs.
In other instances our approach offers new leads in loci devoid of obvious candidate genes, or, as important, highlights alternatives to genes previously proposed (figure 4).
Missense mutations in the gene encoding ASYN [4] [6] and multiplications of the ASYN gene locus lead to familial cases of PD [7] [9].
This may potentially lead to CPS locus variants and vaccine escape.
There were no good surrogates for the 19p12 locus lead SNPs on iCOGS.
Slippage mutations at a neutrally evolving repeat locus lead to differences in repeat number, that is, polymorphism, among its alleles.
In this regard, changes induced by anthracyclins at the 11q23 MLL locus lead to therapy-related acute leukaemias (Allan and Travis, 2005).
Diep et al. [ 31] reported similar observations in P. pentosaceus ATCC 25745, where a truncated pen locus lead to low expression of antimicrobial activity.
Here we present the first functional study on taperin/c9orf75, mutations of which in exon 1 at the DFNB79 locus lead to non-syndromic autosomal recessive deafness.
