Missense mutation of the last nucleotide of exon 1 (G->C) of beta globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele.
Hemoglobin Monroe (beta globin G->C, codon 30) is a missense mutation. We could not detect either the mutant peptide or transcript in reticulocyte-enriched preparation and in expanded erythroid progenitor cells. By quantitative gene expression assay beta globin mRNA was found to be reduced by more than 70% in all heterozygous subjects with different haplotypes. We conclude that this mutation also interferes with expression of wild type allele.
Hematology Division, University of Utah School of Medicine, Salt Lake City, UT, USA.
Neeraj
N
Agarwal
Ferdane
F
Kutlar
Mariluz P
MP
Mojica-Henshaw
Ching N
CN
Ou
Amos
A
Gaikwad
N Scott
NS
Reading
Lakeia
L
Bailey
Abdullah
A
Kutlar
Josef T
JT
Prchal
D000328:Adult; D000483:Alleles; D005091:Exons / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D010455:Peptides / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics
D006455:Hemoglobins, Abnormal; D010455:Peptides; D012333:RNA, Messenger; C059060:hemoglobin Monroe