SVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia B

International Journal of Hematology

Volumn 102, Issue 1, 2015, Pages 134-139

  Nakamura, Yuki ^a   Murata, Moe ^a,b   Takagi, Yuki ^a   Kozuka, Toshihiro ^a   Nakata, Yukiko ^a   Hasebe, Ryo ^a   Takagi, Akira ^a   Kitazawa, Jun ichi ^c   Shima, Midori ^d   Kojima, Tetsuhito ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JAPAN SOCIETY FOR THE PROMOTION OF SCIENCE   (Japan)

^c Kuroishi General Hospital   (Japan)

^d NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

Exontrap analysis; F9; Hemophilia B; mRNA splicing; SVA retrotransposon

Indexed keywords

BLOOD CLOTTING FACTOR 9; EXODEOXYRIBONUCLEASE III; GENOMIC DNA; MESSENGER RNA; NUCLEASE S1; RNA BINDING PROTEIN; RNA DIRECTED DNA POLYMERASE; RETROPOSON;

ARTICLE; CASE REPORT; CHILD; COPY NUMBER VARIATION; DISEASE SEVERITY; DNA SEQUENCE; EXON; GENE DELETION; GENE DOSAGE; HEMOPHILIA B; HUMAN; HUMAN GENOME; JAPANESE (PEOPLE); LEUKOCYTE; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MEDIATED MRNA DECAY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEINURIA; RETROPOSON; RNA SPLICING; SINE VNTR ALU F ELEMENT; URTICARIA; VARIABLE NUMBER OF TANDEM REPEAT; ALTERNATIVE RNA SPLICING; ALU SEQUENCE; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; SEVERITY OF ILLNESS INDEX;

ALTERNATIVE SPLICING; ALU ELEMENTS; EXONS; FACTOR IX; GENETIC ASSOCIATION STUDIES; HEMOPHILIA B; HUMANS; INFANT; MALE; MINISATELLITE REPEATS; POLYMERASE CHAIN REACTION; RETROELEMENTS; SEVERITY OF ILLNESS INDEX;

EID: 84937516456     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-015-1765-5     Document Type: Article

References (18)

1. Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry. 1985;24:3736–50.
2. Bolton-Maggs PHB, Pasi KJ. Haemophilias A and B. Lancet. 2003;361:1801–9.
3. Li T, Miller CH, Payne AB, Craig Hooper W. The CDC hemophilia B mutation project mutation list: a new online resource. Mol Genet Genomic Med. 2013;1:238–45.
4. Kojima T, Tanimoto M, Kamiya T, Obata Y, Takahashi T, Ohno R, et al. Possible absence of common polymorphisms in coagulation factor IX gene in Japanese subjects. Blood. 1987;69:349–52.
5. Okumura K, Fujimori Y, Takagi A, Murate T, Ozeki M, Yamamoto K, et al. Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B. Haemophilia. 2008;14:1088–93.
6. Kato I, Takagi Y, Ando Y, Nakamura Y, Murata M, Takagi A, et al. A complex genomic abnormality found in a patient with antithrombin deficiency and autoimmune disease-like symptoms. Int J Hematol. 2014;100:200–5.
7. Takagi A, Kojima T, Tsuzuki S, Katsumi A, Yamazaki T, Sugiura I, et al. Structural organization and promoter activity of the human ryudocan gene. J Biochem. 1996;119:979–84.
8. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921.
9. Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, et al. LINE-1 retrotransposition activity in human genomes. Cell. 2010;141:1159–70.
10. Raiz J, Damert A, Chira S, Held U, Klawitter S, Hamdorf M, et al. The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery. Nucleic Acids Res. 2012;40:1666–83.
11. Hancks DC, Kazazian HH. Active human retrotransposons: variation and disease. Curr Opin Genet Dev. 2012;22:191–203.
12. Callinan PA, Batzer MA. Retrotransposable elements and human disease. Genome Dyn. 2006;1:104–15.
13. Kaer K, Speek M. Retroelements in human disease. Gene. 2013;518:231–41.
14. Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, et al. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature. 2011;478:127–31.
15. Conley ME, Partain JD, Norland SM, Shurtleff SA, Kazazian HH. Two independent retrotransposon insertions at the same site within the coding region of BTK. Hum Mutat. 2005;25:324–5.
16. Wilund KR, Yi M, Campagna F, Arca M, Zuliani G, Fellin R, et al. Molecular mechanisms of autosomal recessive hypercholesterolemia. Hum Mol Genet. 2002;11:3019–30.
17. Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet. 2007;80:393–406.
18. Hancks DC, Ewing AD, Chen JE, Tokunaga K, Kazazian HH. Exon-trapping mediated by the human retrotransposon SVA. Genome Res. 2009;19:1983–91.