Artículos de revistas
A NOVEL MOBILE ELEMENT INSERTED IN THE ALPHA-SPECTRIN GENE - SPECTRIN DAYTON - A TRUNCATED ALPHA-SPECTRIN ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS
Registro en:
Journal Of Clinical Investigation. Rockefeller Univ Press, v. 94, n. 2, n. 643, n. 648, 1994.
0021-9738
WOS:A1994PA25000026
10.1172/JCI117380
Autor
HASSOUN, H
COETZER, TL
VASSILIADIS, JN
SAHR, KE
MAALOUF, GJ
SAAD, STO
CATANZARITI, L
PALEK, J
Institución
Resumen
Nonviral retrotransposons, retropseudogenes, and short interspersed nuclear elements (SINEs) are mobile DNA segments capable of transposition to new genomic locations, where they may alter gene expression. De novo integration into specific genes has been described in both germ and somatic cells. We report a family with hereditary elliptocytosis and pyropoikilocytosis associated with a truncated alpha-spectrin protein. We present the biochemical characteristics of this abnormal protein and show that the alpha-spectrin gene is disrupted by a mobile element resulting in exon skipping. This element causes duplication of the insertion site and is terminated by a long poly-A tail downstream of multiple consensus polyadenylation signals. Southern blot analysis of human genomic DNA, using this element as probe, reveals one to three copies per individual. This element has no homology to any previously reported sequence and therefore appears to be a member of a novel family of mobile elements. 94 2 643 648
Ítems relacionados
Mostrando ítems relacionados por Título, autor o materia.
-
β-spectrin Promissao: A Translation Initiation Codon Mutation Of The β-spectrin Gene (atg → Gtg) Associated With Hereditary Spherocytosis And Spectrin Deficiency In A Brazilian Family [8]
Basseres D.S.; Vicentim D.L.; Costa F.F.; Saad S.T.O.; Hassoun H. -
A Splice Site Mutation Of The β-spectrin Gene Causing Exon Skipping In Hereditary Elliptocytosis Associated With A Truncated β-spectrin Chain
Gallagher P.G.; Tse W.T.; Costa F.; Scarpa A.; Boivin P.; Delaunay J.; Forget B.G. -
ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA
Bassères, D.S.; Tavares, A.C.; Costa, F.F.; Saad, S.T.O.