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 › peer-review

10 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

Access to Document

10.3324/haematol.11543

Fingerprint Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this

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 › peer-review

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.

@article{c1f1789a5a9040fb913b6f070db43094,

title = "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",

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.}",

year = "2007",

month = dec,

doi = "10.3324/haematol.11543",

language = "English (US)",

volume = "92",

pages = "1715--1716",

journal = "Haematologica",

issn = "0390-6078",

publisher = "Ferrata Storti Foundation",

number = "12",

}

TY - JOUR

T1 - 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

AU - Agarwal, Neeraj

AU - Kutlar, Ferdane

AU - Mojica-Henshaw, Mariluz P.

AU - Ou, Ching N.

AU - Gaikwad, Amos

AU - Reading, N. Scott

AU - Bailey, Lakeia

AU - Kutlar, Abdullah

AU - Prchal, Josef T.

PY - 2007/12

Y1 - 2007/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=37049024105&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=37049024105&partnerID=8YFLogxK

U2 - 10.3324/haematol.11543

DO - 10.3324/haematol.11543

M3 - Article

C2 - 18056002

AN - SCOPUS:37049024105

VL - 92

SP - 1715

EP - 1716

JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 12

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this