IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein

被引:17
作者
Kwasnicka-Crawford, Dorota A.
Carson, Andrew R.
Scherer, Stephen W.
机构
[1] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada
[2] Hosp Sick Children, Dept Genom Biol, Toronto, ON M5G 1X8, Canada
[3] Univ Toronto, Dept Mol & Med Genet, Toronto, ON, Canada
[4] York Univ, Dept Kinesiol & Hlth Sci, Fac Hlth, Norman Bethune Coll 364, N York, ON M3J 1P3, Canada
关键词
paracentric inversion; schwannomin interacting protein; neurofibromatosis type 2; language disorder; autism; calmodulin;
D O I
10.1016/j.bbrc.2006.09.136
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The existence of transcripts that span two adjacent, independent genes is considered rare in the human genome. This study characterizes a novel human fusion gene named IQCJ-SCHIP1. IQCJ-SCHIP1 is the longest isoform of a complex transcriptional unit that bridges two separate genes that encode distinct proteins, IQCJ, a novel IQ motif containing protein and SCHIP1, a schwannomin interacting protein that has been previously shown to interact with the Neurofibromatosis type 2 (NF2) protein. IQCJ-SCHIP1 is located on the chromosome 3q25 and comprises a 1692-bp transcript encompassing 11 exons spanning 828 kb of the genomic DNA. We show that IQCJ-SCHIP1 mRNA is highly expressed in the brain. Protein encoded by the IQCJ-SCHIP1 gene was localized to cytoplasm and actin-rich regions and in differentiated PC12 cells was also seen in neurite extensions. (c) 2006 Elsevier Inc. All rights reserved.
引用
收藏
页码:890 / 899
页数:10
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