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Titolo:
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Autore:
Tiller, GE; Hannig, VL; Dozier, D; Carrel, L; Trevarthen, KC; Wilcox, WR; Mundlos, S; Haines, JL; Gedeon, AK; Gecz, J;
Indirizzi:
Vanderbilt Univ, Sch Med, Dept Pediat, Nashville, TN 37212 USA Vanderbilt Univ Nashville TN USA 37212 pt Pediat, Nashville, TN 37212 USA Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37212 USA Vanderbilt Univ Nashville TN USA 37212 & Biophys, Nashville, TN 37212 USA Vanderbilt Univ, Sch Med, Program Human Genet, Nashville, TN 37212 USA Vanderbilt Univ Nashville TN USA 37212 man Genet, Nashville, TN 37212 USA Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA Case Western Reserve Univ Cleveland OH USA 44106 Cleveland, OH 44106 USA Case Western Reserve Univ, Sch Med, Ctr Human Genet, Cleveland, OH 44106 USA Case Western Reserve Univ Cleveland OH USA 44106 Cleveland, OH 44106 USA Cedars Sinai Burns & Allen Res Inst, Steven Spielberg Pediat Res Ctr, Los Angeles, CA USA Cedars Sinai Burns & Allen Res Inst Los Angeles CA USA s Angeles, CA USA Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles Los Angeles CA USA 90024 Los Angeles, CA 90024 USA Max Planck Inst Mol Genet, Berlin, Germany Max Planck Inst Mol Genet Berlin Germany nst Mol Genet, Berlin, Germany Univ Adelaide, Women & Child Hosp, Adelaide, SA, Australia Univ Adelaide Adelaide SA Australia Child Hosp, Adelaide, SA, Australia
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 68, anno: 2001,
pagine: 1398 - 1407
SICI:
0002-9297(200106)68:6<1398:ARRMIT>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE EPIPHYSEAL DYSPLASIA; EXON-SKIPPING MUTATION; OSTEOGENESIS IMPERFECTA; VESICLE DOCKING; FAMILY; DEFICIENCY; SEQUENCE; IDENTIFICATION; EXPRESSION; PROTEIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Tiller, GE Vanderbilt Univ, Med Ctr, Div Med Genet, DD2205 MCN, Nashville,TN 37232 USA Vanderbilt Univ DD2205 MCN Nashville TN USA 37232 TN 37232 USA
Citazione:
G.E. Tiller et al., "A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda", AM J HU GEN, 68(6), 2001, pp. 1398-1407

Abstract

Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis. Both autosomal and X-linked forms have been described. Elsewhere, we have reported the identification of the gene for the X-linked recessive form, which maps to Xp22.2. We now report characterization of an exon-skipping mutation (IVS3+5G -->A at the intron 3 splice-donor site) in two unrelated families with SEDL. Using reverse transcriptase (RT)-PCR, we demonstrated that the mutation resulted in elimination of the first 31 codons of the open reading frame. The mutation was not detected in 120 control X chromosomes. Articular cartilage from an adult who had SEDL and carried this mutation contained chondrocytes with abundant Golgi complexes and dilated rough endoplasmic reticulum (ER). RT-PCR experiments using mouse/human cell hybrids revealed that the SEDL gene escapes X inactivation. Homologues of theSEDL gene include a transcribed retropseudogene on chromosome 19, as well as expressed genes in mouse, rat, Drosophila melanogaster Caenorhabditis elegans, and Saccharomyces cerevisiae. The latter homologue, p20, has a putative role in vesicular transport from ER to Golgi complex. These data suggest that SEDL mutations may perturb an intracellular pathway that is important for cartilage homeostasis.

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Documento generato il 21/09/20 alle ore 17:50:45