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	Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (ivs4+1a > g) of sedl causes variable splicing isoforms in x-linked spondyloepiphyseal dysplasia tarda
	Xiong, Feng2; Gao, Jianjun1,3,4; Li, Jun1; Liu, Yun4; Feng, Guoyin1; Fang, Wenli3; Chang, Hongfen3; Xie, Jiang2; Zheng, Haitao5; Li, Tingyu2
刊名	European journal of human genetics
	2009-04-01
卷号	17期号:4页码:510-516
关键词	Alternative splicing Canonical splice site Mutation analysis Noncanonical splice site Splicing mechanism Spondyloepiphyseal dysplasia tarda
ISSN号	1018-4813
DOI	10.1038/ejhg.2008.219
通讯作者	Gao, jianjun(gaoj3@niehs.nih.gov)
英文摘要	X-linked spondyloepiphyseal dysplasia tarda can be caused bymutations in the sedl gene. this study describes an interesting novel mutation (ivs4+1a>g) located exactly at the rare noncanonical at-ac consensus splicing donor point of sedl, which regained the canonical gt-ag consensus splicing junction in addition to several other rarer noncanonical splice patterns. the mutation activated several cryptic splice sites and generated the production of seven erroneous splicing isoforms, which we confirmed by sequencing of rt-pcr products and resequencing of cdna clones. all the practical splice donors/acceptors were further assessed using fsplice 1.0 and spl(m) platforms to predict potential splice sites in genomic dna. subsequently, the expression levels of sedl among the affected patients, carriers and controls were estimated using real-time quantitative pcr. expression analyses showed that the expression levels of sedl in both patients and carriers were decreased. taken together, these results illustrated how disruption of the at donor site in a rare at-ac intron, leading to a canonical gt donor site, resulted in a multitude of aberrant transcripts, thus impairing exon definition. the unexpected splicing patterns resulting from the special mutation provide additional challenges and opportunities for understanding splicing mechanisms and specificity.
WOS关键词	GENE ; IDENTIFICATION ; EXPRESSION
WOS研究方向	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS类目	Biochemistry & Molecular Biology ; Genetics & Heredity
语种	英语
出版者	NATURE PUBLISHING GROUP
WOS记录号	WOS:000264354900014
内容类型	期刊论文
URI标识	http://www.corc.org.cn/handle/1471x/2395379
专题	中国科学院大学
通讯作者	Gao, Jianjun
作者单位	1.Shanghai Jiao Tong Univ, Bio X Ctr, Shanghai 200030, Peoples R China 2.Chongqing Med Univ, Childrens Hosp, Chongqing, Peoples R China 3.Shanghai Jiao Tong Univ, Changning Greenland Hosp, Inst Neuropsychiat Sci & Metabon, Shanghai 200030, Peoples R China 4.Chinese Acad Sci, Inst Nutr Sci, Shanghai Inst Biol Sci, Grad Sch, Shanghai, Peoples R China 5.Qingdao Univ, Coll Med, Dept Abdominal Surg, Affiliated Yantai Yuhuangding Hosp, Yantai, Shandong, Peoples R China 6.Fudan Univ, Obstet & Gynecol Hosp, Shanghai 200433, Peoples R China 7.Fudan Univ, Inst Biomed Sci, Shanghai 200433, Peoples R China
推荐引用方式 GB/T 7714	Xiong, Feng,Gao, Jianjun,Li, Jun,et al. Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (ivs4+1a > g) of sedl causes variable splicing isoforms in x-linked spondyloepiphyseal dysplasia tarda[J]. European journal of human genetics,2009,17(4):510-516.
APA	Xiong, Feng.,Gao, Jianjun.,Li, Jun.,Liu, Yun.,Feng, Guoyin.,...&He, Lin.(2009).Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (ivs4+1a > g) of sedl causes variable splicing isoforms in x-linked spondyloepiphyseal dysplasia tarda.European journal of human genetics,17(4),510-516.
MLA	Xiong, Feng,et al."Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (ivs4+1a > g) of sedl causes variable splicing isoforms in x-linked spondyloepiphyseal dysplasia tarda".European journal of human genetics 17.4(2009):510-516.

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