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.
Agarwal
Neeraj
N
Hematology Division, University of Utah School of Medicine, Salt Lake City, UT, USA.
Kutlar
Ferdane
F
Mojica-Henshaw
Mariluz P
MP
Ou
Ching N
CN
Gaikwad
Amos
A
Reading
N Scott
NS
Bailey
Lakeia
L
Kutlar
Abdullah
A
Prchal
Josef T
JT
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