| Id |
Subject |
Object |
Predicate |
Lexical cue |
| TextSentencer_T1 |
0-123 |
Sentence |
denotes |
A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. |
| T1 |
0-123 |
Sentence |
denotes |
A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. |
| TextSentencer_T2 |
124-306 |
Sentence |
denotes |
A novel C to A mutation in the sterol 27-hydroxylase gene (CYP27) was identified by sequencing amplified CYP27 gene products from a patient with cerebrotendinous xanthomatosis (CTX). |
| T2 |
124-306 |
Sentence |
denotes |
A novel C to A mutation in the sterol 27-hydroxylase gene (CYP27) was identified by sequencing amplified CYP27 gene products from a patient with cerebrotendinous xanthomatosis (CTX). |
| TextSentencer_T3 |
307-547 |
Sentence |
denotes |
The mutation changed the adrenodoxin cofactor binding residue 362Arg to 362Ser (CGT 362Arg to AGT 362Ser), and was responsible for deficiency in the sterol 27-hydroxylase activity, as confirmed by expression of mutant cDNA into COS-1 cells. |
| T3 |
307-547 |
Sentence |
denotes |
The mutation changed the adrenodoxin cofactor binding residue 362Arg to 362Ser (CGT 362Arg to AGT 362Ser), and was responsible for deficiency in the sterol 27-hydroxylase activity, as confirmed by expression of mutant cDNA into COS-1 cells. |
| TextSentencer_T4 |
548-669 |
Sentence |
denotes |
Quantitative analysis showed that the expression of CYP27 gene mRNA in the patient represented 52.5% of the normal level. |
| T4 |
548-669 |
Sentence |
denotes |
Quantitative analysis showed that the expression of CYP27 gene mRNA in the patient represented 52.5% of the normal level. |
| TextSentencer_T5 |
670-985 |
Sentence |
denotes |
As the mutation occurred at the penultimate nucleotide of exon 6 (-2 position of exon 6-intron 6 splice site) of the gene, we hypothesized that the mutation may partially affect the normal splicing efficiency in exon 6 and cause alternative splicing elsewhere, which resulted in decreased transcript in the patient. |
| T5 |
670-985 |
Sentence |
denotes |
As the mutation occurred at the penultimate nucleotide of exon 6 (-2 position of exon 6-intron 6 splice site) of the gene, we hypothesized that the mutation may partially affect the normal splicing efficiency in exon 6 and cause alternative splicing elsewhere, which resulted in decreased transcript in the patient. |
| TextSentencer_T6 |
986-1244 |
Sentence |
denotes |
Transfection of constructed minigenes, with or without the mutation, into COS-1 cells confirmed that the mutant minigene was responsible for a mRNA species alternatively spliced at an activated cryptic 5' splice site 88 bp upstream from the 3' end of exon 6. |
| T6 |
986-1244 |
Sentence |
denotes |
Transfection of constructed minigenes, with or without the mutation, into COS-1 cells confirmed that the mutant minigene was responsible for a mRNA species alternatively spliced at an activated cryptic 5' splice site 88 bp upstream from the 3' end of exon 6. |
| TextSentencer_T7 |
1245-1485 |
Sentence |
denotes |
Our data suggest that the C to A mutation at the penultimate nucleotide of exon 6 of the CYP27 gene not only causes the deficiency in the sterol 27-hydroxylase activity, but also partially leads to alternative pre-mRNA splicing of the gene. |
| T7 |
1245-1485 |
Sentence |
denotes |
Our data suggest that the C to A mutation at the penultimate nucleotide of exon 6 of the CYP27 gene not only causes the deficiency in the sterol 27-hydroxylase activity, but also partially leads to alternative pre-mRNA splicing of the gene. |
| TextSentencer_T8 |
1486-1621 |
Sentence |
denotes |
To our knowledge, this is the first report regarding effects on pre-mRNA splicing of a mutation at the -2 position of a 5' splice site. |
| T8 |
1486-1621 |
Sentence |
denotes |
To our knowledge, this is the first report regarding effects on pre-mRNA splicing of a mutation at the -2 position of a 5' splice site. |
