Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Animal Genetics

Volumn 42, Issue 6, 2011, Pages 578-584

  Karlskov Mortensen, P ^a   Cirera, S ^a   Nielsen, O L ^b   Arnbjerg, J ^b   Reibel, J ^c   Fredholm, M ^a   Agerholm, J S ^b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Bos taurus; ectodysplasin A; LINE1; X linked hypohidrotic ectodermal dysplasia

Indexed keywords

ANIMAL; ANIMAL DISEASE; ARTICLE; CATTLE; CATTLE DISEASE; FEMALE; FRAMESHIFT MUTATION; GENETICS; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INTRON; LONG INTERSPERSED REPEAT; MALE; STOP CODON;

ANIMALS; CATTLE; CATTLE DISEASES; CODON, TERMINATOR; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; FEMALE; FRAMESHIFT MUTATION; INTRONS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MALE;

BOS; BOS TAURUS;

EID: 80255122657     PISSN: 02689146     EISSN: 13652052     Source Type: Journal    
DOI: 10.1111/j.1365-2052.2011.02192.x     Document Type: Article

References (30)

1. Adelson D.L., Raison J.M., &, Edgar R.C., (2009) Characterization and distribution of retrotransposons and simple sequence repeats in the bovine genome. Proceedings of the National Academy of Sciences of the United States of America 106, 12855-60.
2. Agerholm J.S., (2007) Inherited disorders in Danish cattle. APMIS Supplementum 122, 1-76. (Pubitemid 47591627)
3. Bagnall R.D., Waseem N.H., Green P.M., Colvin B., Lee C., &, Giannelli F., (1999) Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients. British Journal of Haematology 107, 766-71. (Pubitemid 30020148)
4. Barlund C.S., Clark E.G., Leeb T., Drogemuller C., &, Palmer C.W., (2007) Congenital hypotrichosis and partial anodontia in a crossbred beef calf. The Canadian Veterinary Journal 48, 612-4. (Pubitemid 47034614)
5. Barresi R., Di Blasi C., Negri T., et al. (2000) Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. Journal of Medical Genetics 37, 102-7. (Pubitemid 30245892)
6. Belancio V.P., Hedges D.J., &, Deininger P., (2006) LINE-1 RNA splicing and influences on mammalian gene expression. Nucleic Acids Research 34, 1512-21.
7. Casal M.L., Jezyk P.F., Greek J.M., Goldschmidt M.H., &, Patterson D.F., (1997) X-linked ectodermal dysplasia in the dog. The Journal of Heredity 88, 513-7. (Pubitemid 28006557)
8. Cui C.Y., &, Schlessinger D., (2006) EDA signaling and skin appendage development. Cell Cycle 5, 2477-83. (Pubitemid 44785825)
9. De Gasperi R., Gama Sosa M.A., Sartorato E.L., Battistini S., MacFarlane H., Gusella J.F., Krivit W., &, Kolodny E.H., (1996) Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. American Journal of Human Genetics 59, 1233-42. (Pubitemid 26394114)
10. Doffinger R., Smahi A., Bessia C., et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nature Genetics 27, 277-85. (Pubitemid 32201848)
11. Drogemuller C., Distl O., &, Leeb T., (2001) Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. Genome Research 11, 1699-705. (Pubitemid 33040496)
12. Drogemuller C., Kuiper H., Peters M., Guionaud S., Distl O., &, Leeb T., (2002a) Congenital hypotrichosis with anodontia in cattle: a genetic, clinical and histological analysis. Veterinary Dermatology 13, 307-13. (Pubitemid 135712178)
13. Drogemuller C., Peters M., Pohlenz J., Distl O., &, Leeb T., (2002b) A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. Journal of Molecular Medicine 80, 319-23. (Pubitemid 34507891)
14. Drogemuller C., Barlund C.S., Palmer C.W., &, Leeb T., (2006) A novel mutation in the bovine EDA gene causing anhidrotic ectodermal dysplasia (Brief report). Archiv fur Tierzucht-Archives of Animal Breeding 49, 615-6. (Pubitemid 44935799)
15. Elsik C.G., Tellam R.L., Worley K.C., et al. (2009) The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science 324, 522-8.
16. Girardot M., Guibert S., Laforet M.P., Gallard Y., Larroque H., &, Oulmouden A., (2006) The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregulation of the Normande Agouti gene. Pigment Cell Research 19, 346-55. (Pubitemid 44015597)
17. Jurka J., Klonowski P., Dagman V., &, Pelton P., (1996) CENSOR-a program for identification and elimination of repetitive elements from DNA sequences. Computers and Chemistry 20, 119-21. (Pubitemid 126405358)
18. Kerr C.B., Wells R.S., &, Cooper K.E., (1966) Gene effect in carriers of anhidrotic ectodermal dysplasia. Journal of Molecular Medicine 3, 169-76.
19. Kim D.S., Kim T.H., Huh J.W., Kim I.C., Kim S.W., Park H.S., &, Kim H.S., (2006) LINE FUSION GENES: a database of LINE expression in human genes. BMC Genomics 7, 139.
20. King K., Flinter F.A., Nihalani V., &, Green P.M., (2002) Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. Human Genetics 111, 548-54. (Pubitemid 36075087)
21. Larkin M.A., Blackshields G., Brown N.P., et al. (2007) Clustal W and Clustal X version 2.0. Bioinformatics 23, 2947-8. (Pubitemid 350162903)
22. Levitus M., Waisfisz Q., Godthelp B.C., et al. (2005) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group. Nature Genetics of Journal 37, 934-5. (Pubitemid 43086148)
23. Li W.H., Gu Z., Wang H., &, Nekrutenko A., (2001) Evolutionary analyses of the human genome. Nature 409, 847-9. (Pubitemid 32165341)
24. Meischl C., Boer M., Ahlin A., &, Roos D., (2000) A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease. European Journal of Human Genetics 8, 697-703.
25. Mülhardt C., Fischer M., Gass P., Simon-Chazottes D., Guenet J.L., Kuhse J., Betz H., &, Becker C.M., (1994) The spastic mouse: aberrant splicing of glycine receptor [beta] subunit mRNA caused by intronic insertion of Ll element. Neuron 13, 1003-15. (Pubitemid 24347312)
26. Nekrutenko A., &, Li W.H., (2001) Transposable elements are found in a large number of human protein-coding genes. Trends in Genetics 17, 619-21. (Pubitemid 32973815)
27. Reed W.B., Lopez D.A., &, Landing B., (1970) Clinical spectrum of anhidrotic ectodermal dysplasia. Archives of Dermatology 102, 134-43.
28. Sundberg J.P., (1994) The Tabby (Ta), Tabby-c (Tac), and Tabby-J (Taj) mutations, chromosome X. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities (Ed. by, J.P. Sundberg,), pp. 455-62. CRC Press, New York.
29. Vorechovsky I., (2010) Transposable elements in disease-associated cryptic exons. Human Genetics 127, 135-54.
30. Zemojtel T., Penzkofer T., Schultz J., Dandekar T., Badge R., &, Vingron M., (2007) Exonization of active mouse L1s: a driver of transcriptome evolution? BMC Genomics 8, 392.