Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/76551
Type: Artigo de periódico
Title: A NOVEL MOBILE ELEMENT INSERTED IN THE ALPHA-SPECTRIN GENE - SPECTRIN DAYTON - A TRUNCATED ALPHA-SPECTRIN ASSOCIATED WITH HEREDITARY ELLIPTOCYTOSIS
Author: HASSOUN, H
COETZER, TL
VASSILIADIS, JN
SAHR, KE
MAALOUF, GJ
SAAD, STO
CATANZARITI, L
PALEK, J
Abstract: 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.
Subject: MOBILE ELEMENTS
RETROTRANSPOSONS
EXON SKIPPING
HEREDITARY ELLIPTOCYTOSIS
ALPHA SPECTRIN
Editor: Rockefeller Univ Press
Rights: aberto
Identifier DOI: 10.1172/JCI117380
Date Issue: 1994
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

Files in This Item:
File Description SizeFormat 
WOSA1994PA25000026.pdf1.74 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.