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• W2100059903 abstract "<b>Objective: </b> The <i>GRIN3B</i> gene encodes NR3B, a motoneuron-specific member of the NMDA type of ionotropic glutamate receptors. NR3B reduces the Ca²⁺-permeability as well as the overall current of the receptor response and may thereby protect motoneurons against glutamate-mediated excitotoxicity. We tested whether genetic dysfunction of <i>GRIN3B</i> is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS). <b>Methods: </b> We searched for mutations in the <i>GRIN3B</i> coding region (3.1 kb) in 117 individuals with familial ALS and in 46 individuals with sporadic ALS. We genotyped the newly identified <i>GRIN3B</i> null allele and four “tag single nucleotide polymorphisms (SNPs)” at the <i>GRIN3B</i> locus in 342 individuals with sporadic ALS and in 374 matched controls. The <i>GRIN3B</i> null allele frequency was determined in 2,128 individuals from a worldwide panel of 42 populations. We furthermore compared the <i>GRIN3B</i> coding sequence in primates (human–macaque) and rodents (rat–mouse) to evaluate the molecular evolution of <i>GRIN3B</i>. <b>Results: </b> Thirty-two SNPs, including 16 previously unreported SNPs, one 27-bp deletion, a polymorphic CAG repeat, and a 4-bp insertion (insCGTT), were identified. Mutational and case–control studies did not reveal variants that cause or modify disease in ALS. Intriguing is an insCGTT variant that truncates the protein at its amino terminus and results in a <i>GRIN3B</i> null allele. We demonstrated a global distribution of the null allele with allele frequencies ranging between 0 and 0.38, and we delineated a null allele specific haplotype of 9.89 kb. Comparative genomic analysis across four taxa demonstrated accelerated evolution of NR3B in primates. <b>Conclusions: </b> Our study supports the conclusions that 1) <i>GRIN3B</i> does not seem to be associated with familial or sporadic ALS, 2) the <i>GRIN3B</i> null allele is a common polymorphism, 3) the <i>GRIN3B</i> null allele has arisen once and early in human evolution, and 4) the <i>GRIN3B</i> gene belongs to a group of nervous system–related genes that have been subjected to faster evolution during evolution." @default.
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• W2100059903 date "2007-08-08" @default.
• W2100059903 modified "2023-09-25" @default.
• W2100059903 title "Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null allele" @default.
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• W2100059903 doi "https://doi.org/10.1212/01.wnl.0000271078.51280.17" @default.
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