Biased exon/intron distribution of cryptic and de novo 3′ splice sites

Nucleic Acids Research

Volumn 33, Issue 15, 2005, Pages 4882-4898

  Královičová, Jana ^a   Christensen, Mikkel B ^a   Vořechovský, Igor ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; MESSENGER RNA; NUCLEOTIDE; PYRIMIDINE DERIVATIVE; RNA BINDING PROTEIN;

3' UNTRANSLATED REGION; EXON; GENE CLUSTER; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; INTRON; PREDICTION; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SCORING SYSTEM; ARTICLE; CHEMISTRY; CONSENSUS SEQUENCE; GENETIC TRANSCRIPTION; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; RNA SPLICING;

BASE SEQUENCE; CONSENSUS SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC DISEASES, INBORN; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOTIDES; PYRIMIDINES; RNA SPLICE SITES; RNA-BINDING PROTEINS; TRANSCRIPTION, GENETIC;

EID: 24744464160     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gki811     Document Type: Review

References (183)

1. Burge,C.B., Tuschl,T. and Sharp,P.A. (1999) Splicing of precursors to mRNAs by the spliceosome. In Gesteland,R.F., Cech,T.R. and Atkins,J.F. (eds), The RNA World. Cold Spring Harbor Laboratory Press, New York, pp. 525-560.
2. Fairbrother,W.G., Yeh,R.F., Sharp,P.A. and Burge,C.B. (2002) Predictive identification of exonic splicing enhancers in human genes. Science 297, 1007-1013.
3. Zhang,X.H. and Chasin,L.A. (2004) Computational definition of sequence motifs governing constitutive exon splicing. Genes Dev., 18, 1241-1250.
4. Cartegni,L., Chew,S.L. and Krainer,A.R. (2002) Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nature Rev. Genet., 3, 285-298.
5. Wang,Z., Rolish,M.E., Yeo,G., Tung,V., Mawson,M. and Burge,C.B. (2004) Systematic identification and analysis of exonic splicing silencers. Cell, 119, 831-845.
6. Teraoka,S.N., Telatar,M., Becker-Catania,S., Liang,T., Onengut,S., Tolun,A., Chessa,L., Sanal,O., Bernatowska,E., Gatti,R.A. et al. (1999) Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am. J. Hum. Genet., 64 1617-1631.
7. Ars,E., Serra,E., Garcia,J., Kruyer,H., Gaona,A., Lazaro,C. and Estivill,X. (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet., 9, 237-247.
8. Lopez-Bigas,N., Audit,B., Ouzounis,C., Parra,G. and Guigo,R. (2005) Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett., 579, 1900-1903.
9. Nakai,K. and Sakamoto,H. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene, 141, 171-177.
10. Krawczak,M., Reiss,J. and Cooper,D.N. (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet., 90, 41-54.
11. Roca,X., Sachidanandam,R. and Krainer,A.R. (2003) Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res. 31, 6321-6333.
12. Shapiro,M.B. and Senapathy,P. (1987) RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
13. Senapathy,P., Shapiro,M.B. and Harris,N.L. (1990) Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project. Methods Enzymol., 183, 252-278.
14. Kol,G., Lev-Maor,G. and Ast,G. (2005) Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation. Hum. Mol. Genet., 14, 1559-1568.
15. Královičová,J., Houngninou-Molango,S., Krämer,A. and Vořechovský,I. (2004) Branch sites haplotypes that control alternative splicing. Hum. Mol. Genet., 13, 3189-3202.
16. Vořechovský,I., Luo,L., Dyer,M.J., Catovsky,D., Amlot,P.L., Yaxley,J.C., Foroni,L., Hammarström,L., Webster,A.D. and Yuille,M.A. (1997) Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Nature Genet., 17, 96-99.
17. Darling,T.N., Yee,C., Koh,B., McGrath,J.A., Bauer,J.W., Uitto,J., Hintner,H. and Yancey,K.B. (1998) Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. J. Invest. Dermatol., 110, 165-169.
18. Otterness,D.M., Szumlanski,C.L., Wood,T.C. and Weinshilboum,R.M. (1998) Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity. J. Clin. Invest., 101, 1036-1044.
19. Fujimaru,M., Tanaka,A., Choeh,K., Wakamatsu,N., Sakuraba,H. and Isshiki,G. (1998) Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3′-splice site selection and cause Sandhoff disease. Hum. Genet., 103, 462-469.
20. Chua,K. and Reed,R. (2001) An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing. Mol. Cell. Biol., 21, 1509-1514.
21. Mount,S.M. (1982) A catalogue of splice junction sequences. Nucleic Acids Res., 10, 459-472.
22. Hebsgaard,S.M., Korning,P.G., Tolstrup,N., Engelbrecht,J., Rouze,P. and Brunak,S. (1996) Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res., 24, 3439-3452.
23. Bruggenwirth,H.T., Boehmer,A.L., Ramnarain,S., Verleun-Mooijman,M.C., Satijn,D.P., Trapman,J., Grootegoed,J.A. and Brinkmann,A.O. (1997) Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: An unusual type of intronic mutation. Am. J. Hum. Genet., 61, 1067-1077.
24. Nakano,T. and Suzuki,K. (1989) Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of β-hexosaminidase β chain gene transcript due to a point mutation within intron 12. J. Biol. Chem. 264, 5155-5158.
25. Ars,E., Kruyer,H., Morell,M., Pros,E., Serra,E., Ravella,A., Estivill,X. and Lazaro,C. (2003) Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J. Med. Genet., 40, e82.
26. Aksentijevich,I., Galon,J., Soares,M., Mansfield,E., Hull,K., Oh,H.H., Goldbach-Mansky,R., Dean,J., Athreya,B., Reginato,A.J. et al. (2001) The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am. J. Hum. Genet., 69, 301-314.
27. Eskesen,S.T., Eskesen,F.N. and Ruvinsky,A. (2004) Natural selection affects frequencies of AG and GT dinucleotides at the 5′ and 3′ ends of exons. Genetics, 167, 543-550.
28. β-chain mutation causing severe hypofibrinogenemia Blood, 103, 3051-3054.
29. Pohlenz,J., Rosenthal,I.M., Weiss,R.E., Jhiang,S.M., Burant,C. and Refetoff,S. (1998) Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3′ splice site. J. Clin. Invest., 101 1028-1035.
30. Pomponio,R.J., Reynolds,T.R., Mandel,H., Admoni,O., Melone,P.D., Buck,G.A. and Wolf B. (1997) Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3′ splice acceptor site within an exon of the human biotinidase gene. Hum. Mol. Genet. 6, 739-745.
31. Maugeri,A., van Driel,M.A., van de Pol,D.J., Klevering,B.J., van Haren,F.J., Tijmes,N., Bergen,A.A., Rohrschneider,K., Blankenagel,A., Pinckers,A.J. et al. (1999) The 2588G>C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am. J. Hum. Genet., 64, 1024-1035.
32. Tamouza,R., El Kassar,N., Schaeffer,V., Carbonnelle,E., Tatari,Z., Marzais,F., Fortier,C., Poirier,J.C., Sadki,K., Bernaudin,F. et al. (2000) A novel HLA-B*39 allele (HLA-B*3916) due to a rare mutation causing cryptic splice site activation. Hum. Immunol., 61, 467-473.
33. Bruce,L.J., Ghosh,S., King,M.J., Layton,D.M., Mawby,W.J., Stewart,G.W., Oldenborg,P.A., Delaunay,J. and Tanner,M.J. (2002) Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: An interaction between the Rh complex and the band 3 complex. Blood, 100, 1878-1885.
34. Tavassoli,K., Eigel,A., Dworniczak,B., Valtseva,E. and Horst,J. (1998) Identification of four novel mutations in the factor VIII gene: Three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC). Hum. Mutat., Suppl. 1, S260-S262.
35. Nakamura,K., Fukao,T., Perez-Cerda,C., Luque,C., Song,X.Q., Naiki,Y., Kohno,Y., Ugarte,M. and Kondo,N. (2001) A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol. Genet. Metab., 72, 115-121.
36. Kajihara,S., Matsuhashi,S., Yamamoto,K., Kido,K., Tsuji,K., Tanae,A., Fujiyama,S., Itoh,T., Tanigawa,K., Uchida,M. et al. (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am. J. Hum. Genet., 57, 549-555.
37. Hasegawa,Y., Kawame,H., Ida,H., Ohashi,T. and Eto,Y. (1994) Single exon mutation in arylsulfatase A gene has two effects: Loss of enzyme activity and aberrant splicing. Hum. Genet., 93, 415-420.
38. Tavassoli,K., Eigel,A., Pollmann,H. and Horst,J. (1997) Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations. Hum. Genet., 100, 508-511.
39. Mayer,K., Ballhausen,W., Leistner,W. and Rott,H. (2000) Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. Biochim. Biophys. Acta, 1502, 495-507.
40. Lublin,D.M., Mallinson,G., Poole,J., Reid,M.E., Thompson,E.S., Ferdman,B.R., Telen,M.J., Anstee,D.J. and Tanner,M.J. (1994) Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group phenotypes. Blood, 84, 1276-1282.
41. Chavanas,S., Gache,Y., Vailly,J., Kanitakis,J., Pulkkinen,L., Uitto,J., Ortonne,J. and Meneguzzi,G. (1999) Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Hum. Mol. Genet., 8, 2097-2105.
42. Yeo,G., Hoon,S., Venkatesh,B. and Burge,C.B. (2004) Variation in sequence and organization of splicing regulatory elements in vertebrate genes. Proc. Natl Acad. Sci. USA, 101, 15000-15005.
43. Hagstrom,S.A., North,M.A., Nishina,P.L., Berson,E.L. and Dryja,T.P. (1998) Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nature Genet., 18 174-176.
44. Gu,S., Lennon,A., Li,Y., Lorenz,B., Fossarello,M., North,M., Gal,A. and Wright,A. (1998) Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. Lancet, 351, 1103-1104.
45. Lee,P.L., Barton,J.C., Brandhagen,D. and Beutler,E. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br. J. Haematol., 127, 224-229.
46. Claes,K., Vandesompele,J., Poppe,B., Dahan,K., Coene,I., De Paepe,A. and Messiaen,L. (2002) Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5′ end of the BRCA1 gene. Oncogene, 21 4171-4175.
47. Vafiadaki,E., Cooper,A., Heptinstall,L.E., Hatton,C.E., Thornley,M. and Wraith,J.E. (1998) Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). Arch. Dis. Child., 79, 237-241.
48. Tuffery-Giraud,S., Chambert,S., Demaille,J. and Claustres,M. (1999) Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum. Mutat., 14, 359-368.
49. Wakamatsu,N., Kobayashi,H., Miyatake,T. and Tsuji,S. (1992) A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3′ splice site selection. J. Biol. Chem., 267, 2406-2413.
50. Yenchitsomanus,P., Thanootarakul,P., Akkarapatumwong,V., Oranwiroon,S., Pung-Amritt,P., Veerakul,G. and Mahasandana,C. (2001) Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection. Haemophilia, 7, 335-338.
51. Danckwardt,S., Neu-Yilik,G., Thermann,R., Frede,U., Hentze,M.W. and Kulozik,A.E. (2002) Abnormally spliced β-globin mRNAs: A single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay. Blood, 99, 1811-1816.
52. Brand,K., Dugi,K.A., Brunzell,J.D., Nevin,D.N. and Santamarina-Fojo,S. (1996) A novel A>G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency. J. Lipid Res. 37, 1213-1223.
53. Putnam,E.A., Park,E.S., Aalfs,C.M., Hennekam,R.C. and Milewicz,D.M. (1997) Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am. J. Hum. Genet., 60, 818-827.
54. Query,C.C., Strobel,S.A. and Sharp,P.A. (1996) Three recognition events at the branch-site adenine. EMBO J., 15, 1392-1402.
55. Coolidge,C.J., Seely,R.J. and Patton,J.G. (1997) Functional analysis of the polypyrimidine tract in pre-mRNA splicing. Nucleic Acids Res., 25, 888-896.
56. Bouck,J., Fu,X.D., Skalka,A.M. and Katz,R.A. (1995) Genetic selection for balanced retroviral splicing: Novel regulation involving the second step can be mediated by transitions in the polypyrimidine tract. Mol. Cell. Biol., 15, 2663-2671.
57. Janssen,R.J., Wevers,R.A., Haussler,M., Luyten,J.A., Steenbergen-Spanjers,G.C., Hoffmann,G.F., Nagatsu,T. and Van den Heuvel,L.P. (2000) A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann. Hum. Genet., 64, 375-382.
58. Hiller,M., Huse,K., Szafranski,K., Jahn,N., Hampe,J., Schreiber,S., Backofen,R. and Platzer,M. (2004) Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. Nature Genet., 36, 1255-1257.
59. Smith,C.W., Porro,E.B., Patton,J.G. and Nadal-Ginard,B. (1989) Scanning from an independently specified branch point defines the 3′ splice site of mammalian introns. Nature, 342, 243-247.
60. Smith,C.W., Chu,T.T. and Nadal-Ginard,B. (1993) Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns. Mol. Cell. Biol., 13, 4939-4952.
61. Luukkonen,B.G. and Seraphin,B. (1997) The role of branchpoint-3′ splice site spacing and interaction between intron terminal nucleotides in 3′ splice site selection in Saccharomyces cerevisiae. EMBO J. 16, 779-792.
62. Chiara,M.D., Palandjian,L., Feld Kramer,R. and Reed,R. (1997) Evidence that U5 snRNP recognizes the 3′ splice site for catalytic step II in mammals. EMBO J., 16, 4746-4759.
63. Lei,H. and Vořechovský,I. (2005) Identification of splicing silencers and enhancers in sense Alus: A role for pseudo-acceptors in splice site repression. Mol. Cell. Biol., 25, 6912-6920.
64. Fu,X.D., Mayeda,A., Maniatis,T. and Krainer,A.R. (1992) General splicing factors SF2 and SC35 have equivalent activities in vitro, and both affect alternative 5′ and 3′ splice site selection. Proc. Natl Acad. Sci. USA, 89, 11224-11228.
65. Krainer,A.R., Conway,G.C. and Kozak,D. (1990) The essential pre-mRNA splicing factor SF2 influences 5′ splice site selection by activating proximal sites. Cell, 62, 35-42.
66. Zschocke,J. and Hoffmann,G.F. (1999) Phenylketonuria mutations in Germany. Hum. Genet., 104, 390-398.
67. Amsellem,S., Briffaut,D., Carrie,A., Rabes,J.P., Girardet,J.P., Fredenrich,A., Moulin,P., Krempf,M., Reznik,Y., Vialettes,B. et al. (2002) Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. Hum. Genet., 111, 501-510.
68. Du,Y.Z., Srivastava,A.K. and Schwartz,C.E. (1998) Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. Hum. Mutat., 11, 222-230.
69. Fahsold,R., Hoffmeyer,S., Mischung,C., Gille,C., Ehlers,C., Kucukceylan,N., Abdel-Nour,M., Gewies,A., Peters,H., Kaufmann,D. et al. (2000) Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am. J. Hum. Genet., 66, 790-818.
70. Korkko,J., Ala-Kokko,L., De Paepe,A., Nuytinck,L., Earley,J. and Prockop,D.J. (1998) Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: Identification of common sequences of null-allele mutations. Am. J. Hum. Genet., 62, 98-110.
71. Bosco,P., Cali,F., Meli,C., Mollica,F., Zammarchi,E., Cerone,R., Vanni,C., Palillo,L., Greco,D. and Romano,V. (1998) Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. Hum. Mutat., 11, 240-243.
72. Marchetti,C., Patriarca,P., Solero,G.P., Baralle,F.E. and Romano,M. (2004) Genetic studies on myeloperoxidase deficiency in Italy. Jpn. J. Infect. Dis., 57, S10-S12.
73. Cladaras,C., Hadzopoulou-Cladaras,M., Felber,B.K., Pavlakis,G. and Zannis,V.I. (1987) The molecular basis of a familial ApoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene. J. Biol. Chem., 262, 2310-2315.
74. Antonarakis,S.E., Irkin,S.H., Cheng,T.C., Scott,A.F., Sexton,J.P., Trusko,S.P., Charache,S. and Kazazian,H.H.Jr (1984) β-thalassemia in American blacks: Novel mutations in the 'TATA' box and an acceptor splice site. Proc. Natl Acad. Sci. USA, 81, 1154-1158.
75. 65) recognize polypyrimidine tracts using multiple modes of binding. RNA, 9 88-99.
76. 65 to couple 3′-end processing and splicing. Genes Dev., 14, 403-413.
77. 65 splicing factor in promoting pre-mRNA 3′-end processing. EMBO Rep., 3, 869-874.
78. Chen,S., Anderson,K. and Moore,M.J. (2000) Evidence for a linear search in bimolecular 3′ splice site AG selection. Proc. Natl Acad. Sci. USA, 97, 593-598.
79. Yamanaka,T., Yada,T., Takagi,T. and Nakai,K. (2001) RECOMB2000. The Fourth Annual International Conference on Computational Molecular Biology April 8-11 2000. Tokyo, Japan, pp. 82-83.
80. Messiaen,L.M., Callens,T., Mortier,G., Beysen,D., Vandenbroucke,I., Van Roy,N., Speleman,F. and Paepe,A.D. (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum. Mutat., 15, 541-555.
81. Alkhayat,A.H., Kraemer,S.A., Leipprandt,J.R., Macek,M., Kleijer,W.J. and Friderici,K.H. (1998) Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis. Hum. Mol. Genet., 7, 75-83.
82. De Jonghe,C., Cruts,M., Rogaeva,E.A., Tysoe,C., Singleton,A., Vanderstichele,H., Meschino,W., Dermaut,B., Vanderhoeven,I., Backhovens,H. et al. (1999) Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum. Mol. Genet., 8, 1529-1540.
83. Chua,K. and Reed,R. (1999) The RNA splicing factor hSlu7 is required for correct 3′ splice-site choice. Nature, 402, 207-210.
84. Kan,J.L. and Green,M.R. (1999) Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor. Genes Dev., 13, 462-471.
85. Nemeroff,M.E., Utans,U., Krämer,A. and Krug,R.M. (1992) Identification of cis-acting intron and exon regions in influenza virus NS1 mRNA that inhibit splicing and cause the formation of aberrantly sedimenting presplicing complexes. Mol. Cell. Biol., 12, 962-970.
86. Lallena,M.J., Chalmers,K.J., Llamazares,S., Lamond,A.I. and Valcarcel,J. (2002) Splicing regulation at the second catalytic step by Sex-lethal involves 3′ splice site recognition by SPF45. Cell, 109, 285-296.
87. Schwer,B. and Gross,C.H. (1998) Prp22, a DExH-box RNA helicase, plays two distinct roles in yeast pre-mRNA splicing. EMBO J., 17, 2086-2094.
88. Zhang,X. and Schwer,B. (1997) Functional and physical interaction between the yeast splicing factors Slu7 and Prp18. Nucleic Acids Res. 25, 2146-2152.
89. Guth,S., Tange,T.O., Kellenberger,E. and Valcarcel,J. (2001) Dual function for U2AF(35) in AG-dependent pre-mRNA splicing. Mol. Cell. Biol., 21, 7673-7681.
90. Newman,A.J., Teigelkamp,S. and Beggs,J.D. (1995) snRNA interactions at 5′ and 3′ splice sites monitored by photoactivated crosslinking in yeast spliceosomes. RNA, 1, 968-980.
91. Teigelkamp,S., Newman,A.J. and Beggs,J.D. (1995) Extensive interactions of PRP8 protein with the 5′ and 3′ splice sites during splicing suggest a role in stabilization of exon alignment by U5 snRNA. EMBO J., 14, 2602-2612.
92. Verselis,S.J., Rheinwald,J.G., Fraumeni,J.F.Jr and Li,F.P. (2000) Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. Oncogene, 19, 4230-4235.
93. Urban,Z., Michels,V.V., Thibodeau,S.N., Donis-Keller,H., Csiszar,K. and Boyd,C.D. (1999) Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum. Genet., 104, 135-142.
94. Bouma,P., Cabral,W.A., Cole,W.G. and Marini,J.C. (2001) COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. J. Biol. Chem., 276, 13356-13364.
95. Berget,S.M. (1995) Exon recognition in vertebrate splicing. J. Biol. Chem., 270, 2411-2414.
96. Schollen,E., Frank,C.G., Keldermans,L., Reyntjens,R., Grubenmann,C.E., Clayton,P.T., Winchester,B.G., Smeitink,J., Wevers,R.A., Aebi,M. et al. (2004) Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J. Med. Genet., 41, 550-556.
97. Kobayashi,K., Jackson,M.J., Tick,D.B., O'Brien,W.E. and Beaudet,A.L. (1990) Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J. Biol. Chem., 265, 11361-11367.
98. Su,T.S. and Lin,L.H. (1990) Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus. J. Biol. Chem., 265, 19716-19720.
99. Claes,K., Poppe,B., Machackova,E., Coene,I., Foretova,L., De Paepe,A. and Messiaen,L. (2003) Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes. Chromosomes Cancer, 37, 314-320.
100. Song,W.J., Sullivan,M.G., Legare,R.D., Hutchings,S., Tan,X., Kufrin,D., Ratajczak,J., Resende,I.C., Haworth,C., Hock,R. et al. (1999) Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genet., 23, 166-175.
101. Weaving,L.S., Christodoulou,J., Williamson,S.L., Friend,K.L., McKenzie,O.L., Archer,H., Evans,J., Clarke,A., Pelka,G.J., Tam,P.P. et al. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet., 75, 1079-1093.
102. Munroe,P.B., Mitchison,H.M., O'Rawe,A.M., Anderson,J.W., Boustany,R.M., Lerner,T.J., Taschner,P.E., de Vos,N., Breuning,M.H., Gardiner,R.M. et al. (1997) Spectrum of mutations in the Batten disease gene, CLN3. Am. J. Hum. Genet., 61, 310-316.
103. Hennies,H.C., Rauch,A., Seifert,W., Schumi,C., Moser,E., Al-Taji,E., Tariverdian,G., Chrzanowska,K.H., Krajewska-Walasek,M., Rajab,A. et al. (2004) Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am. J. Hum. Genet., 75 138-145.
104. Pasmooij,A.M., van der Steege,G., Pas,H.H., Smitt,J.H., Nijenhuis,A.M., Zuiderveen,J. and Jonkman,M.F. (2004) Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. Br. J. Dermatol., 151, 669-674.
105. Chiodo,A.A., Hockey,A. and Cole,W.G. (1992) A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J. Biol. Chem., 267, 6361-6369.
106. Tromp,G. and Prockop,D.J. (1988) Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain. Proc. Natl Acad. Sci. USA, 85, 5254-5258.
107. Williams,C.J., Ganguly,A., Considine,E., McCarron,S., Prockop,D.J., Walsh-Vockley,C. and Michels, V.V. (1996) A-2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am. J. Med. Genet., 63, 461-467.
108. Takahara,K., Schwarze,U., Imamura,Y., Hoffman,G.G., Toriello,H., Smith,L.T., Byers,P.H. and Greenspan,D.S. (2002) Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am. J. Hum. Genet. 71, 451-465.
109. Adachi,K., Takeshima,Y., Wada,H., Yagi,M., Nakamura,H. and Matsuo,M. (2003) Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy. Pediatr. Res., 53, 125-131.
110. Efferth,T., Bachli,E.B., Schwarzl,S.M., Goede,J.S., West,C., Smith,J.C. and Beutler,E. (2004) Glucose-6-phosphate dehydrogenase (G6PD) deficiency-type Zurich: A splice site mutation as an uncommon mechanism producing enzyme deficiency. Blood, 104, 2608.
111. McCarthy,E.M. and Phillips,J.A.,3rd (1998) Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Hum. Mol. Genet., 7, 1491-1496.
112. Yokoi,T., Shinoda,K., Ohno,I., Kato,K., Miyawaki,T. and Taniguchi,N. (1991) A 3′ splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease. Jinrui Idengaku Zasshi, 36, 245-250.
113. Matsumura,T., Osaka,H., Sugiyama,N., Kawanishi,C., Maruyama,Y., Suzuki,K., Onishi,H., Yamada,Y., Morita,M., Aoki,M. et al. (1998) Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online. Hum. Mutat., 11, 483.
114. Huang,C.H., Blumenfeld,O.O., Reid,M.E., Chen,Y., Daniels,G.L. and Smart,E. (1997) Alternative splicing of a novel glycophorin allele GPHe(GL) generates two protein isoforms in the human erythrocyte membrane. Blood, 90, 391-397.
115. Steingrimsdottir,H., Rowley,G., Dorado,G., Cole,J. and Lehmann,A.R. (1992) Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. Nucleic Acids Res., 20, 1201-1208.
116. Lin,Y.W., Perkins,J.J., Zhang,Z. and Aplan,P.D. (2004) Distinct mechanisms lead to HPRT gene mutations in leukemic cells. Genes Chrom. Cancer, 39, 311-323.
117. Gibbs,R.A., Nguyen,P.N., McBride,L.J., Koepf,S.M. and Caskey,C.T. (1989) Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. Natl Acad. Sci. USA, 86, 1919-1923.
118. Gibbs,R.A., Nguyen,P.N., Edwards,A., Civitello,A.B. and Caskey,C.T. (1990) Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics, 7, 235-244.
119. Takahashi,Y., Kadowaki,H., Ando,A., Quin,J.D., MacCuish,A.C., Yazaki,Y., Akanuma,Y. and Kadowaki,T. (1998) Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome. J. Clin. Invest., 101, 588-594.
120. Newman,P.J., Seligsohn,U., Lyman,S. and Coller,B.S. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc. Natl Acad. Sci. USA, 88, 3160-3164.
121. Jonkman,M.F., Heeres,K., Pas,H.H., van Luyn,M.J., Elema,J.D., Corden,L.D., Smith,F.J., McLean,W.H., Ramaekers,F.C., Burton,M. et al. (1996) Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J. Invest. Dermatol., 107, 764-769.
122. Naom,I., D'Alessandro,M., Sewry,C.A., Philpot,J., Manzur,A.Y., Dubowitz, V. and Muntoni,F. (1998) Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. Neuromuscul. Disord., 8, 495-501.
123. Castiglia,D., Posteraro,P., Spirito,F., Pinola,M., Angelo,C., Puddu,P., Meneguzzi,G. and Zambruno,G. (2001) Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition. J. Invest. Dermatol. 117, 731-739.
124. Maruyama,T., Miyake,Y., Yamamura,T., Tajima,S., Funahashi,T., Matsuzawa,Y. and Yamamoto,A. (1998) A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping. Mutations in brief no. 139. Online. Hum. Mutat., 11, 480-481.
125. Yu,L., Heere-Ress,E., Boucher,B., Defesche,J.C., Kastelein,J., Lavoie,M.A. and Genest,J.Jr (1999) Familial hypercholesterolemia. Acceptor splice site (G→C) mutation in intron 7 of the LDLR gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDLR (Honduras-1) [LDL-R1061(-1) G→C]. Atherosclerosis, 146, 125-131.
126. Rodningen,O.K., Tonstad,S., Saugstad,O.D., Ose,L. and Leren,T.P. (1999) Mutant transcripts of the LDL receptor gene: MRNA structure and quantity. Hum. Mutat., 13, 186-196.
127. Webb,J.C., Patel,D.D., Shoulders,C.C., Knight,B.L. and Soutar,A.K. (1996) Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. Hum. Mol. Genet., 5, 1325-1331.
128. Machinis,K., Pantel,J., Netchine,I., Leger,J., Camand,O.J., Sobrier,M.L., Dastot-Le Moal,F., Duquesnoy,P., Abitbol,M., Czernichow,P. et al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am. J. Hum. Genet., 69, 961-968.
129. Bonnevie-Nielsen,V., Leigh Field,L., Lu,S., Zheng,D.J., Li,M., Martensen,P.M., Nielsen,T.B., Beck-Nielsen,H., Lau,Y.L. and Pociot,F. (2005) Variation in antiviral 2′,5′-oligoadenylate synthetase (2′5′AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 Gene. Am. J. Hum. Genet., 76, 623-633.
130. Carstens,R.P., Fenton,W.A. and Rosenberg,L.R. (1991) Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency. Am. J. Hum. Genet., 48, 1105-1114.
131. Piriev,N.I., Shih,J.M. and Farber,D.B. (1998) Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene. Invest. Ophthalmol. Vis. Sci., 39, 463-470.
132. Tsujino,S., Servidei,S., Tonin,P., Shanske,S., Azan,G. and DiMauro,S. (1994) Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Am. J. Hum. Genet., 54, 812-819.
133. Kanno,H., Fujii,H., Wei,D.C., Chan,L.C., Hirono,A., Tsukimoto,I. and Miwa,S. (1997) Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. Blood, 89, 4213-4218.
134. Oppliger,T., Thony,B., Kluge,C., Matasovic,A., Heizmann,C.W., Ponzone,A., Spada,M. and Blau,N. (1997) Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. Hum. Mutat., 10, 25-35.
135. Strautnieks,S.S., Thompson,R.J., Gardiner,R.M. and Chung,E. (1996) A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nature Genet., 13, 248-250.
136. Morita,M., Ho,M., Hosler,B.A., McKenna-Yasek,D. and Brown,R.H.Jr (2002) A novel mutation in the spastin gene in a family with spastic paraplegia. Neurosci. Lett., 325, 57-61.
137. Chavanas,S., Bodemer,C., Rochat,A., Hamel-Teillac,D., Ali,M., Irvine,A.D., Bonafe,J.L., Wilkinson,J., Taieb,A., Barrandon,Y. et al. (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nature Genet., 25, 141-142.
138. Villa,A., Notarangelo,L.D., Di Santo,J.P., Macchi,P.P., Strina,D., Frattini,A., Lucchini,F., Patrosso,C.M., Giliani,S., Mantuano,E. et al. (1994) Organization of the human CD40L gene: Implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc. Natl Acad. Sci. USA, 91, 2110-2114.
139. Varley,J.M., Attwooll,C., White,G., McGown,G., Thorncroft,M., Kelsey,A.M., Greaves,M., Boyle,J. and Birch,J.M. (2001) Characterization of germline TP53 splicing mutations and their genetic and functional analysis. Oncogene, 20, 2647-2654.
140. Varley,J.M., McGown,G., Thorncroft,M., White,G.R., Tricker,K.J., Kelsey,A.M., Birch,J.M. and Evans,D.G. (1998) A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: A patient with Wilms' tumour is not a mutation carrier. Br. J. Cancer, 78, 1081-1083.
141. Bendig,I., Mohr,N., Kramer,F. and Weber,B.H. (2004) Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. Cancer Genet. Cytogenet., 154, 22-26.
142. Takahashi,T., D'Amico,D., Chiba,I., Buchhagen,D.L. and Minna,J.D. (1990) Identification of intronic point mutations as an alternative mechanism for p53 inactivation in lung cancer. J. Clin. Invest., 86, 363-369.
143. Gantla,S., Bakker,C.T., Deocharan,B., Thummala,N.R., Zweiner,J., Sinaasappel,M., Roy Chowdhury,J., Bosma,P.J. and Roy Chowdhury,N. (1998) Splice-site mutations: A novel genetic mechanism of Crigler-Najjar syndrome type 1. Am. J. Hum. Genet., 62, 585-592.
144. Sappal,B.S., Ghosh,S.S., Shneider,B., Kadakol,A., Chowdhury,J.R. and Chowdhury,N.R. (2002) A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1. Mol. Genet. Metab., 75 134-142.
145. Satokata,I., Tanaka,K., Miura,N., Miyamoto,I., Satoh,Y., Kondo,S. and Okada,Y. (1990) Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc. Natl Acad. Sci. USA, 87, 9908-9912.
146. Shah,A.B., Chernov,I., Zhang,H.T., Ross,B.M., Das,K., Lutsenko,S., Parano,E., Pavone,L., Evgrafov,O., Ivanova-Smolenskaya,I.A. et al. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses. Am. J. Hum. Genet., 61 317-328.
147. Li,S.S., Tseng,H.M., Yang,T.P., Liu,C.H., Teng,S.J., Huang,H.W., Chen,L.M., Kao,H.W., Chen,J.H., Tseng,J.N. et al. (1999) Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. Hum. Genet., 104, 201-204.
148. Hoffman,J.D., Hallam,S.E., Venne,V.L., Lyon,E. and Ward,K. (1998) Implications of a novel cryptic splice site in the BRCA1 gene. Am. J. Med. Genet., 80, 140-144.
149. Beck,S., Penque,D., Garcia,S., Gomes,A., Farinha,C., Mata,L., Gulbenkian,S., Gil-Ferreira,K., Duarte,A., Pacheco,P. et al. (1999) Cystic fibrosis patients with the 3272-26A>G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane. Hum. Mutat., 14, 133-144.
150. Fanen,P., Ghanem,N., Vidaud,M., Besmond,C., Martin,J., Costes,B., Plassa,F. and Goossens,M. (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics, 13, 770-776.
151. Boot,R.G., Renkema,G.H., Verhoek,M., Strijland,A., Bliek,J., de Meulemeester,T.M., Mannens,M.M. and Aerts,J.M. (1998) The human chitotriosidase gene. Nature of inherited enzyme deficiency. J. Biol. Chem., 273, 25680-25685.
152. Rosipal,R., Lamoril,J., Puy,H., Da Silva,V., Gouya,L., De Rooij,F.W., Te Velde,K., Nordmann,Y., Martasek,P. and Deybach,J.C. (1999) Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. Hum. Mutat., 13, 44-53.
153. Stasia,M.J., Bordigoni,P., Martel,C. and Morel,F. (2002) A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. Hum. Genet., 110, 444-450.
154. Higashi,Y., Tanae,A., Inoue,H., Hiromasa,T. and Fujii-Kuriyama,Y. (1988) Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: Possible gene conversion products. Proc. Natl Acad. Sci. USA, 85, 7486-7490.
155. Fisher,C.W., Lau,K.S., Fisher,C.R., Wynn,R.M., Cox,R.P. and Chuang,D.T. (1991) A 17-bp insertion and a Phe215Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Biochem. Biophys. Res. Commun., 174, 804-809.
156. Roest,P.A., Bout,M., van der Tuijn,A.C., Ginjaar,I.B., Bakker,E., Hogervorst,F.B., van Ommen,G.J. and den Dunnen,J.T. (1996) Splicing mutations in DMD/BMD detected by RT-PCR/PTT: Detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD. J. Med. Genet., 33, 935-939.
157. Weeda,G., van Ham,R.C., Vermeulen,W., Bootsma,D., van der Eb,A.J. and Hoeijmakers,J.H. (1990) A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell, 62, 777-791.
158. Morgan,N.V., Tipping,A.J., Joenje,H. and Mathew,C.G. (1999) High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am. J. Hum. Genet., 65, 1330-1341.
159. Weber,Y., Steinberger,D., Deuschl,G., Benecke,R. and Muller,U. (1997) Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: Exon skipping and one base insertion. Neurogenetics, 1, 125-127.
160. 0-thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron. EMBO J., 5, 2551-2557.
161. + thalassemia: aberrant splicing results from a single point mutation in an intron. Cell, 27, 289-298.
162. +-thalassemic gene. Cell, 28, 585-593.
163. +-thalassemic human globin gene. Proc. Natl Acad. Sci. USA, 78, 2455-2459.
164. Dlott,B., d'Azzo,A., Quon,D.V. and Neufeld,E.F. (1990) Two mutations produce intron insertion in mRNA and elongated β-subunit of human β-hexosaminidase. J. Biol. Chem., 265, 17921-17927.
165. O'Neill,J.P., Rogan,P.K., Cariello,N. and Nicklas,J.A. (1998) Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum. Mutat. Res., 411, 179-214.
166. Rossi,A.M., Tates,A.D., van Zeeland,A.A. and Vrieling,H. (1992) Molecular analysis of mutations affecting hprt mRNA splicing in human T-lymphocytes in vivo. Environ. Mol. Mutagen., 19, 7-13.
167. Nelson,C., Rabb,H. and Arnaout,M.A. (1992) Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of β2 integrins. J. Biol. Chem., 267, 3351-3357.
168. Rosenthal,A., Jouet,M. and Kenwrick,S. (1992) Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet., 2, 107-112.
169. Jouet,M., Moncla,A., Paterson,J., McKeown,C., Fryer,A., Carpenter,N., Holmberg,E., Wadelius,C. and Kenwrick,S. (1995) New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. Am. J. Hum. Genet., 56, 1304-1314.
170. Laccone,F., Huppke,P., Hanefeld,F. and Meins,M. (2001) Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Hum. Mutat., 17, 183-190.
171. FitzPatrick,D.R., Hill,A., Tolmie,J.L., Thorburn,D.R. and Christodoulou,J. (1999) The molecular basis of malonyl-CoA decarboxylase deficiency. Am. J. Hum. Genet., 65, 318-326.
172. Tanner,S.M., Laporte,J., Guiraud-Chaumeil,C. and Liechti-Gallati,S. (1998) Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum. Mutat., 11, 62-68.
173. Jaaskelainen,P., Kuusisto,J., Miettinen,R., Karkkainen,P., Karkkainen,S., Heikkinen,S., Peltola,P., Pihlajamaki,J., Vauhkonen,I. and Laakso,M. (2002) Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. J. Mol. Med., 80, 412-422.
174. Spritz,R.A., Fukai,K., Holmes,S.A. and Luande,J. (1995) Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am. J. Hum. Genet., 56, 1320-1323.
175. Dworniczak,B., Aulehla-Scholz,C., Kalaydjieva,L., Bartholome,K., Grudda,K. and Horst,J. (1991) Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe. Genomics, 11, 242-246.
176. Alonso,J., Frayle,H., Menendez,I., Lopez,A., Garcia-Miguel,P., Abelairas,J., Sarret,E., Vendrell,M.T., Navajas,A., Artigas,M. et al. (2004) Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. Hum. Mutat., 25, 99.
177. Sippel,K.C., DeStefano,J.D., Berson,E.L. and Dryja,T.P. (1998) Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. Invest. Ophthalmol. Vis. Sci., 39, 665-670.
178. Blanck,C., Kohlhase,J., Engels,S., Burfeind,P., Engel,W., Bottani,A., Patel,M.S., Kroes,H.Y. and Cobben,J.M. (2000) Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. J. Med. Genet., 37, 303-307.
179. Jochmans,K., Lissens,W., Yin,T., Michiels,J.J., van der Luit,L., Peerlinck,K., De Waele,M. and Liebaers,I. (1994) Molecular basis for type 1 antithrombin deficiency: Identification of two novel point mutations and evidence for a de novo splice site mutation. Blood, 84, 3742-3748.
180. Sapp,P.C., Rosen,D.R., Hosler,B.A., Esteban,J., McKenna-Yasek,D., O'Regan,J.P., Horvitz,H.R. and Brown,R.H.Jr (1995) Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscul. Disord., 5, 353-357.
181. Bulman,M.P., Harries,L.W., Hansen,T., Shepherd,M., Kelly,W.F., Hattersley,A.T. and Ellard,S. (2002) Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. Diabetologia, 45, 1463-1467.
182. Matsumoto,T., Imamura,O., Yamabe,Y., Kuromitsu,J., Tokutake,Y., Shimamoto,A., Suzuki,N., Satoh,M., Kitao,S., Ichikawa,K. et al. (1997) Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: Genetic epidemiology in the Japanese population. Hum. Genet., 100, 123-130.
183. Chan,A.C., Kadlecek,T.A., Elder,M.E., Filipovich,A.H., Kuo,W.L., Iwashima,M., Parslow,T.G. and Weiss,A. (1994) ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 264, 1599-1601.