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1. 发明申请

WO2005033290A3 METHODS FOR ALTERING MRNA SPLICING AND TREATING FAMILIAL DYSAUTONOMIA AND OTHER MECHANISTICALLY RELATED DISORDERS 审中-公开
标题翻译：改变MRNA分离和治疗家系DYSAUTONOMIA和其他机械相关疾病的方法
公开(公告)号：WO2005033290A3
公开(公告)日：2006-09-08
申请号：PCT/US2004032554
申请日：2004-10-01
申请人： GEN HOSPITAL CORP , SLAUGENHAUPT SUSAN A , GUSELLA JAMES F
发明人： SLAUGENHAUPT SUSAN A , GUSELLA JAMES F
IPC分类号： C12P21/00 , C12N20060101 , C12N5/00 , C12N15/00
CPC分类号： A61K31/52 , A61K31/353 , A61K31/355 , C12Q1/6883 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , A61K2300/00
摘要： This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.
摘要翻译：本发明涉及改变细胞中mRNA的剪接的方法。特别地，本发明还涉及用于增加具有编码与突变蛋白相对应的i）错过的mRNA的突变基因的细胞中野生型与错合型mRNA和相应编码蛋白的比例的方法，或ii）拼接机构负责处理错误的mRNA。此外，本发明涉及通过向这样的个体施用诸如激动素的细胞分裂素来治疗患有与错过的mRNA相关的病症的个体，例如家族性自主神经病或神经纤维瘤病1。

2. 发明申请

WO02059381A3 GENE FOR IDENTIFYING INDIVIDUALS WITH FAMILIAL DYSAUTONOMIA 审中-公开
标题翻译：用家族性遗传识别个体的基因
公开(公告)号：WO02059381A3
公开(公告)日：2003-10-09
申请号：PCT/US0200473
申请日：2002-01-07
申请人： GEN HOSPITAL CORP , SLAUGENHAUPT SUSAN , GUSELLA JAMES F
发明人： SLAUGENHAUPT SUSAN , GUSELLA JAMES F
IPC分类号： C07K14/47 , C12N15/85 , C12Q1/68 , A01K67/027 , C12N15/10 , C12N15/63
CPC分类号： C12Q1/6883 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/0306 , A01K2267/0318 , C07K14/47 , C12N15/8509 , C12Q2600/156
摘要： This invention relates to methods and compositions useful for detecting mutations which cause Familial Dysautonomia. Familial dysautonomia (FD; Riley-Day syndrome), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we mapped the FD gene, DYS, to a 0.5 cM region of chromosome 9q31 and showed that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. To investigate the molecular basis of FD, we sequenced the minimal candidate region and cloned and characterized its 5 genes. One of these, IKBKAP, harbors two mutations that can cause FD. The major haplotype mutation is located in the donor splice site of intron 20. This mutation can result in skipping of exon 20 in the mRNA from FD patients, although they continue to express varying levels of wild-type message in a tissue-specific manner. RNA isolated from patient lymphoblasts is primarily wild-type, whereas only the deleted message is seen in RNA isolated from brain. The mutation associated with the minor haplotype in four patients is a missense (R696P) mutation in exon 19 that is predicted to disrupt a potential phosphorylation site. Our findings indicate that almost all cases of FD are caused by an unusual splice defect that displays tissue-specific expression; and they also provide the basis for rapid carrier screening in the Ashkenazi Jewish population.
摘要翻译：本发明涉及可用于检测引起家族性躯体障碍的突变的方法和组合物。家族性失眠症（FD; Riley-Day综合征），一种Ashkenazi犹太病症，是一组先天性感觉神经病最知名和最常见的，其特征在于广泛的感觉和可变自主神经功能障碍。以前，我们将FD基因DYS映射到染色体9q31的0.5cM区域，并显示种族偏倚是由于创始者效应，> 99.5％的疾病等位基因共享共同的祖先单体型。为了研究FD的分子基础，我们对最小候选区进行了测序，克隆并表征了其5个基因。其中之一，IKBKAP，有两个可能导致FD的突变。主要的单倍型突变位于内含子20的供体剪接位点。这种突变可导致FD患者mRNA中外显子20的跳跃，尽管它们以组织特异性方式继续表达不同程度的野生型信息。从患者淋巴母细胞分离的RNA主要是野生型，而只有从脑分离的RNA中才能看到已删除的信息。与4例患者中较小单倍型相关的突变是外显子19中的错义（R696P）突变，预测会破坏潜在的磷酸化位点。我们的研究结果表明，几乎所有FD的病例都是由显示组织特异性表达的不寻常的拼接缺陷引起的; 它们也为在阿什肯纳西犹太人群体中快速的载体筛查提供了基础。

3. 发明申请

WO2005033290A2 METHODS FOR ALTERING MRNA SPLICING AND TREATING FAMILIAL DYSAUTONOMIA AND OTHER MECHANISTICALLY RELATED DISORDERS 审中-公开
标题翻译：改变MRNA分离和治疗家系DYSAUTONOMIA和其他机械相关疾病的方法
公开(公告)号：WO2005033290A2
公开(公告)日：2005-04-14
申请号：PCT/US2004/032554
申请日：2004-10-01
申请人： THE GENERAL HOSPITAL CORPORATION , SLAUGENHAUPT, Susan, A. , GUSELLA, James, F.
发明人： SLAUGENHAUPT, Susan, A. , GUSELLA, James, F.
IPC分类号： C12N
CPC分类号： A61K31/52 , A61K31/353 , A61K31/355 , C12Q1/6883 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158 , A61K2300/00
摘要： This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.
摘要翻译：本发明涉及改变细胞中mRNA的剪接的方法。特别地，本发明还涉及用于增加具有编码与突变蛋白相对应的i）错过的mRNA的突变基因的细胞中野生型与错合型mRNA和相应编码蛋白的比例的方法，或ii）拼接机构负责处理错误的mRNA。此外，本发明涉及通过向这样的个体施用诸如激动素的细胞分裂素来治疗患有与错过的mRNA相关的病症的个体，例如家族性自主神经病或神经纤维瘤病1。

4. 发明申请

WO2002059381A2 GENE FOR IDENTIFYING INDIVIDUALS WITH FAMILIAL DYSAUTONOMIA 审中-公开
标题翻译：用家族性遗传识别个体的基因
公开(公告)号：WO2002059381A2
公开(公告)日：2002-08-01
申请号：PCT/US2002/000473
申请日：2002-01-07
申请人： THE GENERAL HOSPITAL CORPORATION , SLAUGENHAUPT, Susan , GUSELLA, James, F.
发明人： SLAUGENHAUPT, Susan , GUSELLA, James, F.
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A01K2217/05 , A01K2217/075 , A01K2227/105 , A01K2267/0306 , A01K2267/0318 , C07K14/47 , C12N15/8509 , C12Q2600/156
摘要： This invention relates to methods and compositions useful for detecting mutations which cause Familial Dysautonomia. Familial dysautonomia (FD; Riley-Day syndrome), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable autonomic dysfunction. Previously, we mapped the FD gene, DYS , to a 0.5 cM region of chromosome 9q31 and showed that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. To investigate the molecular basis of FD, we sequenced the minimal candidate region and cloned and characterized its 5 genes. One of these, IKBKAP , harbors two mutations that can cause FD. The major haplotype mutation is located in the donor splice site of intron 20. This mutation can result in skipping of exon 20 in the mRNA from FD patients, although they continue to express varying levels of wild-type message in a tissue-specific manner. RNA isolated from patient lymphoblasts is primarily wild-type, whereas only the deleted message is seen in RNA isolated from brain. The mutation associated with the minor haplotype in four patients is a missense (R696P) mutation in exon 19 that is predicted to disrupt a potential phosphorylation site. Our findings indicate that almost all cases of FD are caused by an unusual splice defect that displays tissue-specific expression; and they also provide the basis for rapid carrier screening in the Ashkenazi Jewish population.
摘要翻译：本发明涉及可用于检测引起家族性躯体障碍的突变的方法和组合物。家族性失眠症（FD; Riley-Day综合征），一种Ashkenazi犹太病症，是一组先天性感觉神经病最知名和最常见的，其特征在于广泛的感觉和可变自主神经功能障碍。以前，我们将FD基因DYS映射到染色体9q31的0.5cM区域，并显示种族偏倚是由于创始者效应，> 99.5％的疾病等位基因共享共同的祖先单体型。为了研究FD的分子基础，我们对最小候选区进行了测序，克隆并表征了其5个基因。其中之一，IKBKAP，有两个可能导致FD的突变。主要的单倍型突变位于内含子20的供体剪接位点。这种突变可导致FD患者mRNA中外显子20的跳跃，尽管它们以组织特异性方式继续表达不同程度的野生型信息。从患者淋巴母细胞分离的RNA主要是野生型，而只有从脑分离的RNA中才能看到已删除的信息。与4例患者中较小单倍型相关的突变是外显子19中的错义（R696P）突变，预测会破坏潜在的磷酸化位点。我们的研究结果表明，几乎所有FD的病例都是由显示组织特异性表达的不寻常的拼接缺陷引起的; 它们也为在阿什肯纳西犹太人群体中快速的载体筛查提供了基础。

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