Prevalent skipping of an individual exon accounts for shortened protein 4.1
Presles
S Feddal, S Hayette, F Baklouti, R Rimokh, R Wilmotte, JP Magaud, J Marechal, EJ Benz , R Girot and J Delaunay
Faculte de Medecine Grange-Blanche, Lyon, France.
An asymptomatic shortened variant of protein 4.1 (-8.5 Kd) was first
recognized in the red blood cells and designated protein 4.1 Presles. We
show here that the missing segment belongs to the 22/24 Kd domain. Protein
4.1 cDNA from reticulocytes was amplified, mapped, and sequenced. The
truncation appeared to result from the prevalent skipping of an individual
and alternatively spliced exon, also called motif II, whereas this motif is
preferentially retained under normal conditions. The same phenomenon was
observed in lympho-blastoid cells. Sequencing over 80 bp of intronic
sequences 5' and 3' of motif II failed to reveal any change. A new
alternative splice site was incidently found 81 nucleotide downstream of
motif II in both normal and truncated 4.1 mRNA.
Volume 80,
Issue 11,
pp. 2925-2930,
12/01/1992
Copyright © 1992 by The American Society of Hematology
