Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
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DOI：
10.1002/ajmg.b.30530
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发表时间：
2007-10-05
影响因子：
2.8
通讯作者：
Geschwind, Daniel H.
中科院分区：
文献类型：
--
作者：
Martin, Christa Lese;Duvall, Jacqueline A.;Geschwind, Daniel H.
细胞遗传不平衡越来越多地被认为是自闭症的原因。在这里，我们报告了一个从头易位之间的短臂染色体15和16在女性自闭症，癫痫，和全球发展迟缓。FISH分析鉴定了在1.7 Mb共济失调蛋白-2结合蛋白-1（A2BP1）基因（也称为FOX1）的第一个外显子和第一个内含子的边界处约160 kb的隐蔽缺失。定量真实的时间PCR（Q-PCR）分析证实了A2BP 1基因5 '启动子区域的外显子1的缺失。逆转录PCR（qRT-PCR）显示个体淋巴细胞中mRNA表达减少，证明了缺失的功能性后果。A2BP1编码脑表达的RNA结合或剪接因子。由于RNA加工和基因调控在广泛性发育障碍中的作用的新证据，我们在自闭症遗传资源交换（AGRE）收集的其他自闭症患者中进行了A2BP1的进一步筛选。在206个亲子三人组中，A2BP1上有27个SNPs基因型，两个区域在P
Cytogenetic imbalances are increasingly being realized as causes of autism. Here, we report a de novo translocation between the short arms of chromosomes 15 and 16 in a female with autism, epilepsy, and global developmental delay. FISH analysis identified a cryptic deletion of approximately 160 kb at the boundary of the first exon and first intron of the 1.7 Mb ataxin-2 binding protein-1 (A2BP1) gene, also called FOX1. Quantitative real time PCR (Q-PCR) analysis verified a deletion of exon 1 in the 5'promoter region of the A2BP1 gene. Reverse transcription PCR (qRT-PCR) showed reduced mRNA expression in the individual's lymphocytes, demonstrating the functional consequence of the deletion. A2BP1 codes for a brainexpressed RNA binding or splicing factor. Because of emerging evidence in the role of RNA processing and gene regulation in pervasive developmental disorders, we performed further screening of A2BP1 in additional individuals with autism from the Autism Genetics Resource Exchange (AGRE) collection. Twenty-seven SNPs were genotyped across A2BP1 in 206 parent-child trios and two regions showed association at P