A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I

Hideki Tatewaki, Hiroko Iida, Mutsuko Nakahara, Hiroko Tsuda, Sachiko Kinoshita, Taisuke Kanaji, Nobuyuki Yoshida, Sumio Miyazaki, Naotaka Hamasaki

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

In an attempt to explore the molecular mechanisms for protein S deficiency, a patient with such a deficiency was examined at the DNA, RNA and protein levels. Nucleotide analyses revealed that the proband, the mother and the grandmother had a G → C substitution in the invariant AG dinucleotide at the splicing acceptor site of intron A/exon 2. This patient was heterozygous for this substitution and the mutant allele was inherited from the proband's mother and grandmother. Reverse transcription-polymerase chain reaction analysis demonstrated several kinds of splicing abnormalities such as exon skipping and cryptic splicing, in addition to correct splicing. Semiquantitation of mRNA for the protein S gene revealed that the amount of the proband's mRNA was reduced to 60% of normal. Thus, this mutation impaired the normal processing of mRNA for the protein S gene, resulting in the subject's severe protein S deficiency.

Original languageEnglish
Pages (from-to)65-71
Number of pages7
JournalThrombosis and Haemostasis
Volume82
Issue number1
Publication statusPublished - Aug 16 1999

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Protein S Deficiency
Multiple Abnormalities
RNA Splice Sites
Protein S
Messenger RNA
Mutation
Exons
Mothers
Introns
Genes
Reverse Transcription
Nucleotides
Alleles
RNA
Polymerase Chain Reaction
DNA
Proteins
Grandparents

All Science Journal Classification (ASJC) codes

  • Hematology

Cite this

A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I. / Tatewaki, Hideki; Iida, Hiroko; Nakahara, Mutsuko; Tsuda, Hiroko; Kinoshita, Sachiko; Kanaji, Taisuke; Yoshida, Nobuyuki; Miyazaki, Sumio; Hamasaki, Naotaka.

In: Thrombosis and Haemostasis, Vol. 82, No. 1, 16.08.1999, p. 65-71.

Research output: Contribution to journalArticle

Tatewaki, H, Iida, H, Nakahara, M, Tsuda, H, Kinoshita, S, Kanaji, T, Yoshida, N, Miyazaki, S & Hamasaki, N 1999, 'A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I', Thrombosis and Haemostasis, vol. 82, no. 1, pp. 65-71.
Tatewaki, Hideki ; Iida, Hiroko ; Nakahara, Mutsuko ; Tsuda, Hiroko ; Kinoshita, Sachiko ; Kanaji, Taisuke ; Yoshida, Nobuyuki ; Miyazaki, Sumio ; Hamasaki, Naotaka. / A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I. In: Thrombosis and Haemostasis. 1999 ; Vol. 82, No. 1. pp. 65-71.
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