Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele

Neeraj Agarwal; Ferdane Kutlar; Mariluz P. Mojica-Henshaw; Ching N. Ou; Amos Gaikwad; N. Scott Reading; Lakeia Bailey; Abdullah Kutlar; Josef T. Prchal

doi:10.3324/haematol.11543

Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele

Neeraj Agarwal, Ferdane Kutlar, Mariluz P. Mojica-Henshaw, Ching N. Ou, Amos Gaikwad, N. Scott Reading, Lakeia Bailey, Abdullah Kutlar, Josef T. Prchal

Pulmonary Disease

Research output: Contribution to journal › Article

9 Scopus citations

Abstract

Hemoglobin Monroe (β 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 β 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.

Original language	English (US)
Pages (from-to)	1715-1716
Number of pages	2
Journal	Haematologica
Volume	92
Issue number	12
DOIs	https://doi.org/10.3324/haematol.11543
State	Published - Dec 2007

ASJC Scopus subject areas

Hematology

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10.3324/haematol.11543

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Agarwal, N., Kutlar, F., Mojica-Henshaw, M. P., Ou, C. N., Gaikwad, A., Reading, N. S., Bailey, L., Kutlar, A., & Prchal, J. T. (2007). Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. Haematologica, 92(12), 1715-1716. https://doi.org/10.3324/haematol.11543

Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. / Agarwal, Neeraj; Kutlar, Ferdane; Mojica-Henshaw, Mariluz P.; Ou, Ching N.; Gaikwad, Amos; Reading, N. Scott; Bailey, Lakeia; Kutlar, Abdullah; Prchal, Josef T.

In: Haematologica, Vol. 92, No. 12, 12.2007, p. 1715-1716.

Research output: Contribution to journal › Article

Agarwal, N, Kutlar, F, Mojica-Henshaw, MP, Ou, CN, Gaikwad, A, Reading, NS, Bailey, L, Kutlar, A & Prchal, JT 2007, 'Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele', Haematologica, vol. 92, no. 12, pp. 1715-1716. https://doi.org/10.3324/haematol.11543

Agarwal, Neeraj ; Kutlar, Ferdane ; Mojica-Henshaw, Mariluz P. ; Ou, Ching N. ; Gaikwad, Amos ; Reading, N. Scott ; Bailey, Lakeia ; Kutlar, Abdullah ; Prchal, Josef T. / Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. In: Haematologica. 2007 ; Vol. 92, No. 12. pp. 1715-1716.

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abstract = "Hemoglobin Monroe (β 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 β 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.",

author = "Neeraj Agarwal and Ferdane Kutlar and Mojica-Henshaw, {Mariluz P.} and Ou, {Ching N.} and Amos Gaikwad and Reading, {N. Scott} and Lakeia Bailey and Abdullah Kutlar and Prchal, {Josef T.}",

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AU - Mojica-Henshaw, Mariluz P.

AU - Ou, Ching N.

AU - Gaikwad, Amos

AU - Reading, N. Scott

AU - Bailey, Lakeia

AU - Kutlar, Abdullah

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