Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site

Chinese Journal of Medical Genetics

Volumn 22, Issue 3, 2005, Pages 251-253

  Ma, Hong Wei ^a   Jiang, Jun ^a   Lu, Jun Feng ^a   Guo, Ran ^a   Niu, Guo Hui ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

Acceptor splice site mutation; Cryptic splice site activation; SEDL gene; X linked spondyloepiphyseal dysplasia tarda

Indexed keywords

COMPLEMENTARY DNA;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 8; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PSEUDOGENE; SEDL GENE; SPONDYLOEPIPHYSEAL DYSPLASIA; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 8; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC DISEASES, X-LINKED; HUMANS; INTRONS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; TRANSCRIPTION FACTORS;

EID: 20644457915     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Gedeon AK, Colley A, Jamieson R, et al. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet, 1999, 22:400-404.
2. Mumm S, Zhang X, Vacca M, et al. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Gene, 2001, 273:285-293.
3. Lu JF, Ma HW, Jiang J, et al. Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda. Chin J Med Genet, 2004, 21:309-311.
4. Gedeon AK, Tiller GE, Le Merrer M, et al. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet, 2001, 68: 1386-1397.
5. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res, 1987, 15:7155-7174.
6. Gecz J, Hillman MA, Gedeon AK, et al. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics, 2000, 69:242-251.