Locus Specific Identification of Transcribed Sequences Using Yacs and Whole Yeast Genomic DNA

Identification of Transcribed Sequences ◽

10.1007/978-1-4615-2562-2_5 ◽

1994 ◽

pp. 29-35

Author(s):

Sankhavaram R. Patanjali ◽

Hong Xia Xu ◽

Satish Parimoo ◽

Sherman M. Weissman

Keyword(s):

Genomic Dna ◽

Specific Identification ◽

Transcribed Sequences

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Exon trapping: a genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.87.22.8995 ◽

1990 ◽

Vol 87 (22) ◽

pp. 8995-8999 ◽

Cited By ~ 87

Author(s):

G. M. Duyk ◽

S. W. Kim ◽

R. M. Myers ◽

D. R. Cox

Keyword(s):

Genomic Dna ◽

Genetic Screen ◽

Exon Trapping ◽

Transcribed Sequences

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A novel SINE family occurs frequently in both genomic DNA and transcribed sequences in ixodid ticks of the arthropod sub-phylum Chelicerata

Gene ◽

10.1016/j.gene.2008.01.026 ◽

2008 ◽

Vol 415 (1-2) ◽

pp. 13-22 ◽

Cited By ~ 11

Author(s):

Jack D. Sunter ◽

Sonal P. Patel ◽

Robert A. Skilton ◽

Naftaly Githaka ◽

Donald P. Knowles ◽

...

Keyword(s):

Genomic Dna ◽

Ixodid Ticks ◽

Sine Family ◽

Transcribed Sequences

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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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