小鼠 Glra1（痉挛型）新等位基因中的从头外显子重复。
De novo exon duplication in a new allele of mouse Glra1 (spasmodic).
作者信息
Holland Katherine D, Fleming Michelle T, Cheek Susannah, Moran Jennifer L, Beier David R, Meisler Miriam H
机构信息
Division of Neurology, Cincinnati Children's Hospital Medical Center, OH 45229-3039, and Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618, USA.
出版信息
Genetics. 2006 Dec;174(4):2245-7. doi: 10.1534/genetics.106.065532. Epub 2006 Oct 8.
Abstract
The novel neurological mutant Cincinatti arose by genomic duplication of exon 5 in the glycine receptor gene Glra1. The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication event by a replication slippage mechanism.
摘要
新型神经学突变体辛辛那提（Cincinatti）是由甘氨酸受体基因Glra1中外显子5的基因组重复产生的。突变转录本导致蛋白质过早截短。在断点附近存在五聚体GGGGC的直接重复序列，可能通过复制滑移机制介导了重复事件。
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