Yoo, L.I., Chung, D.C. & Yuan, J. LKB1—a master tumour suppressor of the small intestine and beyond. Nat. Rev. Cancer 2, 529–535 (2002).
Lim W. et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br. J. Cancer 89, 308–313 (2003).
Hemminki, A. et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391, 184–187 (1998).
Jenne, D.E. et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat. Genet. 18, 38–43 (1998).
Bardeesy, N. et al. Loss of the Lkb1 tumour suppressor provokes intestinal polyposis but resistance to transformation. Nature 419, 162–167 (2002).
Shaw, R.J. et al. The tumor suppressor LKB1 kinase directly activates AMP-activated kinase and regulates apoptosis in response to energy stress. Proc. Natl. Acad. Sci. USA 101, 3329–3335 (2004).
Lizcano, J.M. et al. LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1. EMBO J. 23, 833–843 (2004).
Corradetti, M.N., Inoki, K., Bardeesy, N., DePinho, R.A. & Guan, K.-L. Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome. Genes Dev. 18, 1533–1538 (2004).
Resta, N. et al. Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. Hum. Mutat. 20, 78–79 (2002).
Hastings, M.L. & Krainer, A.R. Splicing in the new millennium. Curr. Opin. Cell Biol. 13, 302–309 (2001).
Patel, A.A. & Steitz, J.A. Splicing double: insights from the second spliceosome. Nat. Rev. Mol. Cell Biol. 4, 960–970 (2003).
Levine, A. & Durbin, R. A computational scan for U12-dependent introns in the human genome sequence. Nucleic Acids Res. 29, 4006–4013 (2001).
Burset, M., Seledtsov, I.A. & Solovyev, V.V. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res. 28, 4364–4375 (2000).
Maquat, L.E. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat. Rev. Mol. Cell Biol. 5, 89–99 (2004).
Nakai, K. & Sakamoto H. Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141, 171–177 (1994).
Roca, X., Sachidanandam, R. & Krainer, A.R. Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res. 31, 6321–6333 (2003).
Hastings, M.L. & Krainer, A.R. Functions of SR proteins in the U12-dependent AT-AC pre-mRNA splicing pathway. RNA 7, 471–482 (2001).
Senapathy, P., Shapiro, M.B. & Harris, N.L. Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol. 183, 252–278 (1990).
Krainer, A.R., Maniatis, T., Ruskin, B. & Green, M.R. Normal and mutant human β-globin pre-mRNAs are faithfully and efficiently spliced in vitro. Cell 36, 993–1005 (1984).
Frilander, M.J. & Steitz, J.A. Initial recognition of U12-dependent introns requires both U11/5′ splice site and U12/branchpoint interactions. Genes Dev. 13, 851–863 (1999).
Will, C.L. et al. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. RNA 10, 929–941 (2004).
McConnell, T.S., Cho, S.-J., Frilander, M.J. & Steitz, J.A. Branchpoint selection in the splicing of U12-dependent introns in vitro. RNA 8, 579–586 (2002).
Dietrich, R.C., Incorvaia, R. & Padgett, R.A. Terminal intron dinucleotide sequences do not distinguish between U2- and U12- dependent introns. Mol. Cell 1, 151–160 (1997).
Dietrich, R.C., Peris, M.J., Seyboldt, A.S. & Padgett, R.A. Role of the 3′ splice site in U12-dependent intron splicing. Mol. Cell. Biol. 21, 1942–1952 (2001).
Collins, C.A. & Guthrie, C. Allele-specific genetic interactions between Prp8 and RNA active site residues suggest a function for Prp8 at the catalytic core of the spliceosome. Genes Dev. 13, 1970–1982 (1999).
Siatecka, M., Reyes, J.L., & Konarska, M.M. Functional interactions of Prp8 with both splice sites at the spliceosomal catalytic center. Genes Dev. 13, 1983–1993 (1999).
Luo, H.R., Moreau, G.A., Levin, N. & Moore, M.J. The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes. RNA 5, 8893–8908 (1999).
Wu, Q. & Krainer, A.R. AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes. Mol. Cell. Biol. 19, 3225–3236 (1999).
Burge, C.B., Padgett, R.A. & Sharp P.A. Evolutionary fates and origins of U12-type introns. Mol. Cell 2, 773–785 (1998).
Clark, F. & Thanaraj, T.A. Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human. Hum. Mol. Gen. 11, 451–464 (2002).
Otake, L.R., Scamborova, P., Hashimoto, C. & Steitz, J.A. The divergent U12-type spliceosome is required for pre-mRNA splicing and is essential for development in Drosophila. Mol. Cell 9, 439–446 (2002).
Kohrman, D.C., Harris, J.B. & Meisler, M.H. Mutation detection in the med and medJ alleles of the sodium channel Scn8a. J. Biol. Chem. 271, 17576–17581 (1996).
Shaw, M.A. et al. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clin. Genet. 64, 235–242 (2003).