Structural switch from a multistranded G-quadruplex to single strands as a consequence of point mutation in the promoter of the human GRIN1 gene

Swati Chaudhary; Mahima Kaushik; Ritushree Kukreti; Shrikant Kukreti

doi:10.1039/c7mb00360a

Structural switch from a multistranded G-quadruplex to single strands as a consequence of point mutation in the promoter of the human GRIN1 gene

Molecular BioSystems ◽

10.1039/c7mb00360a ◽

2017 ◽

Vol 13 (9) ◽

pp. 1805-1816 ◽

Cited By ~ 5

Author(s):

Swati Chaudhary ◽

Mahima Kaushik ◽

Ritushree Kukreti ◽

Shrikant Kukreti

Keyword(s):

Point Mutation ◽

G Quadruplex

Formation of a multistranded G-quadruplex in a sequence with point mutation in the promoter of the humanGRIN1gene associated with schizophrenia.

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Human Telomeric RNA G-Quadruplex Response to Point Mutation in the G-Quartets

The Journal of Physical Chemistry B ◽

10.1021/acs.jpcb.5b00619 ◽

2015 ◽

Vol 119 (13) ◽

pp. 4617-4627 ◽

Cited By ~ 8

Author(s):

Prachi Agarwala ◽

Santosh Kumar ◽

Satyaprakash Pandey ◽

Souvik Maiti

Keyword(s):

Point Mutation ◽

G Quadruplex ◽

Telomeric Rna

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Paris I Dysfibrinogenemia: A Point Mutation in Intron 8 Results in Insertion of a 15 Amino Acid Sequence in the Fibrinogen γ-Chain

Thrombosis and Haemostasis ◽

10.1055/s-0038-1651583 ◽

1993 ◽

Vol 69 (03) ◽

pp. 217-220 ◽

Cited By ~ 12

Author(s):

Jonathan B Rosenberg ◽

Peter J Newman ◽

Michael W Mosesson ◽

Marie-Claude Guillin ◽

David L Amrani

Keyword(s):

Amino Acid ◽

Amino Acid Sequence ◽

Point Mutation ◽

Genomic Dna ◽

Comparative Sequence Analysis ◽

Chain Gene ◽

Molecular Defect ◽

Nucleotide Position ◽

Normal Individuals ◽

Polymerase Chain

SummaryParis I dysfibrinogenemia results in the production of a fibrinogen molecule containing a functionally abnormal γ-chain. We determined the basis of the molecular defect using polymerase chain reaction (PCR) to amplify the γ-chain region of the Paris I subject’s genomic DNA. Comparative sequence analysis of cloned PCR segments of normal and Paris I genomic DNA revealed only an A→G point mutation occurring at nucleotide position 6588 within intron 8 of the Paris I γ-chain gene. We examined six normal individuals and found only normal sequence in this region, indicating that this change is not likely to represent a normal polymorphism. This nucleotide change leads to a 45 bp fragment being inserted between exons 8 and 9 in the mature γparis I chain mRNA, and encodes a 15 amino acid insert after γ350 [M-C-G-E-A-L-P-M-L-K-D-P-C-Y]. Alternative splicing of this region from intron 8 into the mature Paris I γ-chain mRNA also results after translation into a substitution of S for G at position γ351. Biochemical studies of 14C-iodoacetamide incorporation into disulfide-reduced Paris I and normal fibrinogen corroborated the molecular biologic predictions that two additional cysteine residues exist within the γpariS I chain. We conclude that the insertion of this amino acid sequence leads to a conformationallyaltered, and dysfunctional γ-chain in Paris I fibrinogen.

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