A 3′ splice site consensus sequence mutation in the cystic fibrosis gene

1990 ◽  
Vol 85 (4) ◽  
pp. 450-453 ◽  
Author(s):  
H. Guillermit ◽  
P. Fanent ◽  
C. Ferec
Keyword(s):  
Cystic Fibrosis ◽  
Splice Site ◽  
Consensus Sequence ◽  
Cystic Fibrosis Gene ◽  
Site Consensus

Role of the 3′ splice site consensus sequence in mammalian pre-mRNA splicing

Nature ◽  
1985 ◽  
Vol 317 (6039) ◽  
pp. 732-734 ◽  
Author(s):  
Barbara Ruskin ◽  
Michael R. Green
Keyword(s):  
Splice Site ◽  
Consensus Sequence ◽  
Mrna Splicing ◽  
Site Consensus

scholarly journals A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

1991 ◽  
Vol 36 (3) ◽  
pp. 245-250 ◽  
Author(s):  
Tohru Yokoi ◽  
Kazuko Shinoda ◽  
Ichiro Ohno ◽  
Kimitaka Kato ◽  
Toshio Miyawaki ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Splice Site ◽  
Consensus Sequence ◽  
Site Consensus

scholarly journals Molecular Characterization of PK-LR Gene in Pyruvate Kinase–Deficient Italian Patients

Blood ◽  
1997 ◽  
Vol 89 (10) ◽  
pp. 3847-3852 ◽  
Author(s):  
Alberto Zanella ◽  
Paola Bianchi ◽  
Luciano Baronciani ◽  
Manuela Zappa ◽  
Elena Bredi ◽  
...  
Keyword(s):  
Pyruvate Kinase ◽  
Splice Site ◽  
Stop Codon ◽  
Consensus Sequence ◽  
Missense Mutations ◽  
Frequent Mutation ◽  
Unstable Gene ◽  
Site Consensus ◽  
Conserved Amino Acids

We studied the PK-LR gene in 15 unrelated Italian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase (PK) deficiency. Fourteen different mutations were detected among 26 mutated alleles identified: a five-nucleotide (nt) deletion (227 to 231), two splice-site (1269C and IVS3(−2)c), 10 missense (514C, 787T, 823A, 993A, 994A, 1168A, 1456T, 1529A, 1552A, and 1594T) and one nonsense mutation(s) (721T). Eight of these (deletion 227-231, 1269C, IVS3(−2)c, 514C, 787T, 823A, 1168A, and 1552A) were novel. Moreover, a new polymorphic site was detected in the 3′ untranslated region of the mRNA (C/T, nucleotide 1738). The deletion 227-231 causes a stop codon after amino acid 77, probably resulting in an unstable gene product. Mutations 1269C and IVS3(−2)c lead to an alteration of the 5′ and 3′ splice-site consensus sequence, respectively; cDNA analysis failed to reveal any abnormal transcript, suggesting that these mutations generate an unstable mRNA that is rapidly degraded. Of the five new missense mutations, 823A (Gly275-Arg) and 1168A (Asp390-Asn) involve highly conserved amino acids, 514C (Glu172-Gln) and 1552A (Arg518-Ser), although found in less conserved regions, affect the balance of the electric charges of the protein. Mutation 787T (Gly263-Trp) is likely to determine strong modifications in the local structure of the molecule. The most frequent mutation in Italy appears to be 1456T (seven of 30 alleles), followed by 1529A (three of 30) and 994A (three of 30). A correlation was found between mutations, biochemical characteristics of the enzyme, and clinical course of the disease.

scholarly journals Molecular Characterization of PK-LR Gene in Pyruvate Kinase–Deficient Italian Patients

Blood ◽  
1997 ◽  
Vol 89 (10) ◽  
pp. 3847-3852 ◽  
Author(s):  
Alberto Zanella ◽  
Paola Bianchi ◽  
Luciano Baronciani ◽  
Manuela Zappa ◽  
Elena Bredi ◽  
...  
Keyword(s):  
Pyruvate Kinase ◽  
Splice Site ◽  
Stop Codon ◽  
Consensus Sequence ◽  
Missense Mutations ◽  
Frequent Mutation ◽  
Unstable Gene ◽  
Site Consensus ◽  
Conserved Amino Acids

Abstract We studied the PK-LR gene in 15 unrelated Italian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase (PK) deficiency. Fourteen different mutations were detected among 26 mutated alleles identified: a five-nucleotide (nt) deletion (227 to 231), two splice-site (1269C and IVS3(−2)c), 10 missense (514C, 787T, 823A, 993A, 994A, 1168A, 1456T, 1529A, 1552A, and 1594T) and one nonsense mutation(s) (721T). Eight of these (deletion 227-231, 1269C, IVS3(−2)c, 514C, 787T, 823A, 1168A, and 1552A) were novel. Moreover, a new polymorphic site was detected in the 3′ untranslated region of the mRNA (C/T, nucleotide 1738). The deletion 227-231 causes a stop codon after amino acid 77, probably resulting in an unstable gene product. Mutations 1269C and IVS3(−2)c lead to an alteration of the 5′ and 3′ splice-site consensus sequence, respectively; cDNA analysis failed to reveal any abnormal transcript, suggesting that these mutations generate an unstable mRNA that is rapidly degraded. Of the five new missense mutations, 823A (Gly275-Arg) and 1168A (Asp390-Asn) involve highly conserved amino acids, 514C (Glu172-Gln) and 1552A (Arg518-Ser), although found in less conserved regions, affect the balance of the electric charges of the protein. Mutation 787T (Gly263-Trp) is likely to determine strong modifications in the local structure of the molecule. The most frequent mutation in Italy appears to be 1456T (seven of 30 alleles), followed by 1529A (three of 30) and 994A (three of 30). A correlation was found between mutations, biochemical characteristics of the enzyme, and clinical course of the disease.

scholarly journals Genes of nuclear encoded mitochondrial proteins: evidence for a variant of the 3′ splice-site consensus sequence

1987 ◽  
Vol 15 (24) ◽  
pp. 10083-10086 ◽  
Author(s):  
Nenad Juretić ◽  
Rolf Jausso ◽  
Urs Mattes ◽  
Philipp Christen
Keyword(s):  
Splice Site ◽  
Consensus Sequence ◽  
Mitochondrial Proteins ◽  
Site Consensus

The journey of the Cystic Fibrosis gene

2009 ◽  
Author(s):  
Phoebe Coleman ◽  
Bill Elder
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Gene

CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS

1997 ◽  
Vol 158 (5) ◽  
pp. 1794-1799 ◽  
Author(s):  
David Shin ◽  
Fred Gilbert ◽  
Marc Goldstein ◽  
Peter N. Schlegel
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene ◽  
Incomplete Penetrance
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