A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX

Thrombosis and Haemostasis

Volumn 98, Issue 6, 2007, Pages 1165-1169

  Ameri, Afshin ^a   Machiah, Deepa K ^b   Tran, Thuy T ^b   Channell, Cynthia ^b   Crenshaw, Valerie ^a   Fernstrom, Karl ^b   Khachidze, Manana ^b   Duncan, Alexander ^b   Fuchs, Sebastien ^b   Howard, Tom E ^b,c,d  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^d VA GREATER LOS ANGELES HEALTHCARE SYSTEM   (United States)

Author keywords

Autosomal recessive; Congenital bleeding disorder; F10 Augusta; mRNA surveillance

Indexed keywords

BLOOD CLOTTING FACTOR 10; FRESH FROZEN PLASMA; GENOMIC DNA; MESSENGER RNA; PROTHROMBIN COMPLEX;

ADOLESCENT; AFRICAN AMERICAN; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; CODON; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; MUTANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PATHOGENESIS; PRIORITY JOURNAL; PROTHROMBIN TIME; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; WILD TYPE;

3' FLANKING REGION; ADOLESCENT; BASE SEQUENCE; BLOOD COAGULATION; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR X; FACTOR X DEFICIENCY; GENETIC PREDISPOSITION TO DISEASE; HEMORRHAGE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA STABILITY; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX;

EID: 36949010143     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-02-0125     Document Type: Article

References (15)

1. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-1252.
2. Cooper DN, Millar DS, Wacey A, et al. Inherited factor X deficiency: molecular genetics and pathophysiology. Thromb, Haemost 1997; 78: 161-172.
3. Leyrus SP, Foster DC, Kurachi K, et al. Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C. Biochemistry 1986; 25: 5098-5102.
4. Rieder MJ, Armel TZ, Carrington DP, et al. SeattleSNPs. NHLBI HL66682 Program for Genomic Applications, UW-FHCRC, Seattle, WA, USA (URL: http://pga.gs.washington.edu). 2002.
5. Khachidze M, Buil A, Viel KR, et al. Genetic determinants of normal variation in coagulation factor (F) IX levels: genome-wide scan and examination of the FIX structural gene. J Thromb Haemost 2006; 4: 1537-1545.
6. Karolchik D, Baertsch R, Diekhans M, et al. The UCSC Genome Browser Database. Nucl Acids Res 2003; 31: 51-54.
7. Pruitt KD, Tatusova T, Maglott DR. NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 2005; 33: D501-504.
8. Wahle E, Ruegsegger U. 3′-End processing of prem-RNA in eukaryotes. FEMS Microbiol Rev 1999; 23: 277-295.
9. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987; 15: 7155-7174.
10. Frischmeyer PA, van Hoof A, O'Donnell K, et al. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 2002; 295: 2258-2261.
11. van Hoof A, Frischmeyer PA, Dietz HC, et al. Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science 2002; 295: 2262-2264.
12. Akimitsu N, Tanaka J, Pelletier J. Translation of nonSTOP mRNA is repressed post-initiation in mammalian cells. Embo J 2007; 26: 2327-2338.
13. Inada T, Aiba H. Translation of aberrant mRNAs lacking a termination codon or with a shortened 3′-UTR is repressed after initiation in yeast. Embo J 2005; 24: 1584-1595.
14. Ito-Harashima S, Kuroha K, Tatematsu T, et al. Translation of the poly(A) tail plays crucial roles in nonstop mRNA surveillance via translation repression and protein destabilization by proteasome in yeast. Genes Dev 2007; 21: 519-524.
15. Li X, Hirano R, Tagami H, et al. Protein tagging at rare codons is caused by tmRNA action at the 3′ end of nonstop mRNA generated in response to ribosome stalling. RNA 2006; 12: 248-255.