Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.
TaqMan Express Plates

Site Tools

  • AAAS
  • Subscribe
  • Feedback

Site Search

Search Advanced

Originally published in Science Express on 11 July 2002
Science 9 August 2002:
Vol. 297. no. 5583, pp. 1007 - 1013
DOI: 10.1126/science.1073774
Prev | Table of Contents | Next

Reports

Predictive Identification of Exonic Splicing Enhancers in Human Genes

William G. Fairbrother,12* Ru-Fang Yeh,1* Phillip A. Sharp,12 Christopher B. Burge1dagger

Specific short oligonucleotide sequences that enhance pre-mRNA splicing when present in exons, termed exonic splicing enhancers (ESEs), play important roles in constitutive and alternative splicing. A computational method, RESCUE-ESE, was developed that predicts which sequences have ESE activity by statistical analysis of exon-intron and splice site composition. When large data sets of human gene sequences were used, this method identified 10 predicted ESE motifs. Representatives of all 10 motifs were found to display enhancer activity in vivo, whereas point mutants of these sequences exhibited sharply reduced activity. The motifs identified enable prediction of the splicing phenotypes of exonic mutations in human genes.

1 Department of Biology,
2 Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
*   These authors contributed equally to this work.

dagger    To whom correspondence should be addressed. E-mail: cburge{at}mit.edu

Read the Full Text


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Position-dependent motif characterization using non-negative matrix factorization.
L. N. Hutchins, S. M. Murphy, P. Singh, and J. H. Graber (2008)
Bioinformatics 24, 2684-2690
   Abstract »    Full Text »    PDF »
Genetic Variation in Calcium-Sensing Receptor and Risk for Colon Cancer.
L. M. Dong, C. M. Ulrich, L. Hsu, D. J. Duggan, D. S. Benitez, E. White, M. L. Slattery, B. J. Caan, J. D. Potter, and U. Peters (2008)
Cancer Epidemiol. Biomarkers Prev. 17, 2755-2765
   Abstract »    Full Text »    PDF »
Ab initio identification of functionally interacting pairs of cis-regulatory elements.
B. A. Friedman, M. B. Stadler, N. Shomron, Y. Ding, and C. B. Burge (2008)
Genome Res. 18, 1643-1651
   Abstract »    Full Text »    PDF »
A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.
I. Aznarez, Y. Barash, O. Shai, D. He, J. Zielenski, L.-C. Tsui, J. Parkinson, B. J. Frey, J. M. Rommens, and B. J. Blencowe (2008)
Genome Res. 18, 1247-1258
   Abstract »    Full Text »    PDF »
Antagonistic Effects of the SRp30c Protein and Cryptic 5 ' Splice Sites on the Alternative Splicing of the Apoptotic Regulator Bcl-x.
P. Cloutier, J. Toutant, L. Shkreta, S. Goekjian, T. Revil, and B. Chabot (2008)
J. Biol. Chem. 283, 21315-21324
   Abstract »    Full Text »    PDF »
Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant.
E. Goina, N. Skoko, and F. Pagani (2008)
Mol. Cell. Biol. 28, 3850-3860
   Abstract »    Full Text »    PDF »
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code.
Z. Wang and C. B. Burge (2008)
RNA 14, 802-813
   Abstract »    Full Text »    PDF »
RNA landscape of evolution for optimal exon and intron discrimination.
C. Zhang, W.-H. Li, A. R. Krainer, and M. Q. Zhang (2008)
PNAS 105, 5797-5802
   Abstract »    Full Text »    PDF »
Alternative splicing of Alu exons--two arms are better than one.
N. Gal-Mark, S. Schwartz, and G. Ast (2008)
Nucleic Acids Res. 36, 2012-2023
   Abstract »    Full Text »    PDF »
Positive selection acting on splicing motifs reflects compensatory evolution.
S. Ke, X. H.-F. Zhang, and L. A. Chasin (2008)
Genome Res. 18, 533-543
   Abstract »    Full Text »    PDF »
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
B. Hurtado, X. Munoz, M. C. Mulero, G. Navarro, P. Domenech, P. Garcia de Frutos, M. Perez-Riba, and N. Sala (2008)
Haematologica 93, 574-580
   Abstract »    Full Text »    PDF »
A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 Achieve Proper Splicing Without an Upstream Polypyrimidine Tract.
Y. Habara, M. Doshita, S. Hirozawa, Y. Yokono, M. Yagi, Y. Takeshima, and M. Matsuo (2008)
J. Biochem. 143, 303-310
   Abstract »    Full Text »    PDF »
Global analysis of mRNA splicing.
M. J. Moore and P. A. Silver (2008)
RNA 14, 197-203
   Abstract »    Full Text »    PDF »
Combinatorial Control of Exon Recognition.
K. J. Hertel (2008)
J. Biol. Chem. 283, 1211-1215
   Abstract »    Full Text »    PDF »
F-SNP: computationally predicted functional SNPs for disease association studies.
P. H. Lee and H. Shatkay (2008)
Nucleic Acids Res. 36, D820-D824
   Abstract »    Full Text »    PDF »
Genes in Glucose Metabolism and Association With Spina Bifida.
C. M. Davidson, H. Northrup, T. M. King, J. M. Fletcher, I. Townsend, G. H. Tyerman, and Kit Sing Au (2008)
Reproductive Sciences 15, 51-58
   Abstract »    PDF »
Multisite and bidirectional exonic splicing enhancer in CD44 alternative exon v3.
E. Vela, J. M. Hilari, X. Roca, A. M. Munoz-Marmol, A. Ariza, and M. Isamat (2007)
RNA 13, 2312-2323
   Abstract »    Full Text »    PDF »
Evidence for a Trade-Off between Translational Efficiency and Splicing Regulation in Determining Synonymous Codon Usage in Drosophila melanogaster.
T. Warnecke and L. D. Hurst (2007)
Mol. Biol. Evol. 24, 2755-2762
   Abstract »    Full Text »    PDF »
Coevolutionary networks of splicing cis-regulatory elements.
X. Xiao, Z. Wang, M. Jang, and C. B. Burge (2007)
PNAS 104, 18583-18588
   Abstract »    Full Text »    PDF »
Alternatively Spliced T-cell Receptor Transcripts Are Up-regulated in Response to Disruption of Either Splicing Elements or Reading Frame.
Y.-F. Chang, W.-K. Chan, J. S. Imam, and M. F. Wilkinson (2007)
J. Biol. Chem. 282, 29738-29747
   Abstract »    Full Text »    PDF »
Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.
J. Kralovicova and I. Vorechovsky (2007)
Nucleic Acids Res. 35, 6399-6413
   Abstract »    Full Text »    PDF »
Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications.
A. Aartsma-Rus and G.-J. B. van Ommen (2007)
RNA 13, 1609-1624
   Abstract »    Full Text »    PDF »
Common Genetic Variation in KCNH2 Is Associated With QT Interval Duration: The Framingham Heart Study.
C. Newton-Cheh, C.-Y. Guo, M. G. Larson, S. L. Musone, A. Surti, A. L. Camargo, J. A. Drake, E. J. Benjamin, D. Levy, R. B. D'Agostino Sr, et al. (2007)
Circulation 116, 1128-1136
   Abstract »    Full Text »    PDF »
Role of purine-rich exonic splicing enhancers in nuclear retention of pre-mRNAs.
I. Taniguchi, K. Masuyama, and M. Ohno (2007)
PNAS 104, 13684-13689
   Abstract »    Full Text »    PDF »
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
A. Donsante, J. Tang, S. C Godwin, C. S Holmes, D. S Goldstein, A. Bassuk, and S. G Kaler (2007)
J. Med. Genet. 44, 492-497
   Abstract »    Full Text »    PDF »
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
E. Buratti, M. Chivers, J. Kralovicova, M. Romano, M. Baralle, A. R. Krainer, and I. Vorechovsky (2007)
Nucleic Acids Res. 35, 4250-4263
   Abstract »    Full Text »    PDF »
A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.
H. Zhu, H. M. Tucker, K. E. Grear, J. F. Simpson, A. K. Manning, L. A. Cupples, and S. Estus (2007)
Hum. Mol. Genet. 16, 1765-1772
   Abstract »    Full Text »    PDF »
A correlation with exon expression approach to identify cis-regulatory elements for tissue-specific alternative splicing.
D. Das, T. A. Clark, A. Schweitzer, M. Yamamoto, H. Marr, J. Arribere, S. Minovitsky, A. Poliakov, I. Dubchak, J. E. Blume, et al. (2007)
Nucleic Acids Res.
   Abstract »    Full Text »    PDF »
Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.
C. Barlassina, C. Dal Fiume, C. Lanzani, P. Manunta, G. Guffanti, A. Ruello, G. Bianchi, L. Del Vecchio, F. Macciardi, and D. Cusi (2007)
Hum. Mol. Genet. 16, 1630-1638
   Abstract »    Full Text »    PDF »
A comprehensive computational characterization of conserved mammalian intronic sequences reveals conserved motifs associated with constitutive and alternative splicing.
R. B. Voelker and J. A. Berglund (2007)
Genome Res. 17, 1023-1033
   Abstract »    Full Text »    PDF »
A Sequence Motif in the Simian Virus 40 (SV40) Early Core Promoter Affects Alternative Splicing of Transcribed mRNA.
E. Gendra, D. F. Colgan, B. Meany, and M. M. Konarska (2007)
J. Biol. Chem. 282, 11648-11657
   Abstract »    Full Text »    PDF »
Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay.
J. Z. Ni, L. Grate, J. P. Donohue, C. Preston, N. Nobida, G. O'Brien, L. Shiue, T. A. Clark, J. E. Blume, and M. Ares Jr. (2007)
Genes & Dev. 21, 708-718
   Abstract »    Full Text »    PDF »
Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.
N. N. Singh, R. N. Singh, and E. J. Androphy (2007)
Nucleic Acids Res. 35, 371-389
   Abstract »    Full Text »    PDF »
Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12.
M. Raponi, F. E. Baralle, and F. Pagani (2007)
Nucleic Acids Res. 35, 606-613
   Abstract »    Full Text »    PDF »
Snap: an integrated SNP annotation platform.
S. Li, L. Ma, H. Li, S. Vang, Y. Hu, L. Bolund, and J. Wang (2007)
Nucleic Acids Res. 35, D707-D710
   Abstract »    Full Text »    PDF »
Identification of alternative 5'/3' splice sites based on the mechanism of splice site competition.
H. Xia, J. Bi, and Y. Li (2006)
Nucleic Acids Res. 34, 6305-6313
   Abstract »    Full Text »    PDF »
The splicing regulators Tra and Tra2 are unusually potent activators of pre-mRNA splicing.
K. S. Sciabica and K. J. Hertel (2006)
Nucleic Acids Res. 34, 6612-6620
   Abstract »    Full Text »    PDF »
Activation of {alpha}-Tropomyosin Exon 2 Is Regulated by the SR Protein 9G8 and Heterogeneous Nuclear Ribonucleoproteins H and F.
J. B. Crawford and J. G. Patton (2006)
Mol. Cell. Biol. 26, 8791-8802
   Abstract »    Full Text »    PDF »
PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping.
K. Suphapeetiporn, P. Kongkam, J. Tantivatana, T. Sinthuwiwat, S. Tongkobpetch, and V. Shotelersuk (2006)
Jpn. J. Clin. Oncol. 36, 814-821
   Abstract »    Full Text »    PDF »
Intronic Deletions in the SLC34A3 Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria.
S. Ichikawa, A. H. Sorenson, E. A. Imel, N. E. Friedman, J. M. Gertner, and M. J. Econs (2006)
J. Clin. Endocrinol. Metab. 91, 4022-4027
   Abstract »    Full Text »    PDF »
Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs.
J.-i. Takeda, Y. Suzuki, M. Nakao, R. A. Barrero, K. O. Koyanagi, L. Jin, C. Motono, H. Hata, T. Isogai, K. Nagai, et al. (2006)
Nucleic Acids Res. 34, 3917-3928
   Abstract »    Full Text »    PDF »
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
P. J. Smith, C. Zhang, J. Wang, S. L. Chew, M. Q. Zhang, and A. R. Krainer (2006)
Hum. Mol. Genet. 15, 2490-2508
   Abstract »    Full Text »    PDF »
Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
E. Buratti, M. Baralle, and F. E. Baralle (2006)
Nucleic Acids Res. 34, 3494-3510
   Abstract »    Full Text »    PDF »
Cryptic splice site usage in exon 7 of the human fibrinogen B{beta}-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon.
S. Spena, M. L. Tenchini, and E. Buratti (2006)
RNA 12, 948-958
   Abstract »    Full Text »    PDF »
LINE-1 RNA splicing and influences on mammalian gene expression.
V. P. Belancio, D. J. Hedges, and P. Deininger (2006)
Nucleic Acids Res. 34, 1512-1521
   Abstract »    Full Text »    PDF »
An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.
A. Disset, C.F. Bourgeois, N. Benmalek, M. Claustres, J. Stevenin, and S. Tuffery-Giraud (2006)
Hum. Mol. Genet. 15, 999-1013
   Abstract »    Full Text »    PDF »
Bioinformatics of alternative splicing and its regulation.
L. Florea (2006)
Brief Bioinform 7, 55-69
   Abstract »    Full Text »    PDF »
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
R. Varon, V. Dutrannoy, G. Weikert, C. Tanzarella, A. Antoccia, L. Stockl, E. Spadoni, L.-A. Kruger, A. d. Masi, K. Sperling, et al. (2006)
Hum. Mol. Genet. 15, 679-689
   Abstract »    Full Text »    PDF »
Distal regulation of alternative splicing by splicing enhancer in equine {beta}-casein intron 1.
T. LENASI, B. M. PETERLIN, and P. DOVC (2006)
RNA 12, 498-507
   Abstract »    Full Text »    PDF »
Splicing of a Critical Exon of Human Survival Motor Neuron Is Regulated by a Unique Silencer Element Located in the Last Intron.
N. K. Singh, N. N. Singh, E. J. Androphy, and R. N. Singh (2006)
Mol. Cell. Biol. 26, 1333-1346
   Abstract »    Full Text »    PDF »
Position-Dependent Repression and Promotion of DQB1 Intron 3 Splicing by GGGG Motifs.
J. Kralovicova and I. Vorechovsky (2006)
J. Immunol. 176, 2381-2388
   Abstract »    Full Text »    PDF »
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
S McVety, L Li, P H Gordon, G Chong, and W D Foulkes (2006)
J. Med. Genet. 43, 153-156
   Abstract »    Full Text »    PDF »
Evidence for Purifying Selection Against Synonymous Mutations in Mammalian Exonic Splicing Enhancers.
J. L. Parmley, J. V. Chamary, and L. D. Hurst (2006)
Mol. Biol. Evol. 23, 301-309
   Abstract »    Full Text »    PDF »
The Origins of Eukaryotic Gene Structure.
M. Lynch (2006)
Mol. Biol. Evol. 23, 450-468
   Abstract »    Full Text »    PDF »
Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.
D.-Q. Xu and W. Mattox (2006)
Hum. Mol. Genet. 15, 329-336
   Abstract »    Full Text »    PDF »
Regulation of CD44 Alternative Splicing by SRm160 and Its Potential Role in Tumor Cell Invasion.
C. Cheng and P. A. Sharp (2006)
Mol. Cell. Biol. 26, 362-370
   Abstract »    Full Text »    PDF »
HOLLYWOOD: a comparative relational database of alternative splicing.
D. Holste, G. Huo, V. Tung, and C. B. Burge (2006)
Nucleic Acids Res. 34, D56-D62
   Abstract »    Full Text »    PDF »
Characteristics and regulatory elements defining constitutive splicing and different modes of alternative splicing in human and mouse.
C. L. ZHENG, X.-D. FU, and M. GRIBSKOV (2005)
RNA 11, 1777-1787
   Abstract »    Full Text »    PDF »
Bioinformatic identification of candidate cis-regulatory elements involved in human mRNA polyadenylation.
J. HU, C. S. LUTZ, J. WILUSZ, and B. TIAN (2005)
RNA 11, 1485-1493
   Abstract »    Full Text »    PDF »
Insights into the mechanisms of splicing: more lessons from the ribosome.
M. M. Konarska and C. C. Query (2005)
Genes & Dev. 19, 2255-2260
   Full Text »    PDF »
Splicing in action: assessing disease causing sequence changes.
D Baralle and M Baralle (2005)
J. Med. Genet. 42, 737-748
   Abstract »    Full Text »    PDF »
Alternative Splicing of Type II Procollagen Exon 2 Is Regulated by the Combination of a Weak 5' Splice Site and an Adjacent Intronic Stem-loop Cis Element.
A. McAlinden, N. Havlioglu, L. Liang, S. R. Davies, and L. J. Sandell (2005)
J. Biol. Chem. 280, 32700-32711
   Abstract »    Full Text »    PDF »
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.
J. Wang, P. J. Smith, A. R. Krainer, and M. Q. Zhang (2005)
Nucleic Acids Res. 33, 5053-5062
   Abstract »    Full Text »    PDF »
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
J. Kralovicova, M. B. Christensen, and I. Vorechovsky (2005)
Nucleic Acids Res. 33, 4882-4898
   Abstract »    Full Text »    PDF »
Identification of Splicing Silencers and Enhancers in Sense Alus: a Role for Pseudoacceptors in Splice Site Repression.
H. Lei and I. Vorechovsky (2005)
Mol. Cell. Biol. 25, 6912-6920
   Abstract »    Full Text »    PDF »
Exon Inclusion Is Dependent on Predictable Exonic Splicing Enhancers.
X. H.-F. Zhang, T. Kangsamaksin, M. S. P. Chao, J. K. Banerjee, and L. A. Chasin (2005)
Mol. Cell. Biol. 25, 7323-7332
   Abstract »    Full Text »    PDF »
Up-regulation of the ubiquitous alternative splicing factor Tra2{beta} causes inclusion of a germ cell-specific exon.
J. P. Venables, C. F. Bourgeois, C. Dalgliesh, L. Kister, J. Stevenin, and D. J. Elliott (2005)
Hum. Mol. Genet. 14, 2289-2303
   Abstract »    Full Text »    PDF »
Quantifying optimal accuracy of local primary sequence bioinformatics methods.
D. P. Aalberts, E. G. Daub, and J. W. Dill (2005)
Bioinformatics 21, 3347-3351
   Abstract »    Full Text »    PDF »
Discovery of Novel Flavin-Containing Monooxygenase 3 (FMO3) Single Nucleotide Polymorphisms and Functional Analysis of Upstream Haplotype Variants.
S. B. Koukouritaki, M. T. Poch, E. T. Cabacungan, D. G. McCarver, and R. N. Hines (2005)
Mol. Pharmacol. 68, 383-392
   Abstract »    Full Text »    PDF »
Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer.
H. Lei, I. N. M. Day, and I. Vorechovsky (2005)
Nucleic Acids Res. 33, 3897-3906
   Abstract »    Full Text »    PDF »
Dichotomous splicing signals in exon flanks.
X. H-F. Zhang, C. S. Leslie, and L. A. Chasin (2005)
Genome Res. 15, 768-779
   Abstract »    Full Text »    PDF »
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
F. Pagani, M. Raponi, and F. E. Baralle (2005)
PNAS 102, 6368-6372
   Abstract »    Full Text »    PDF »
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
J. Ramser, F. E. Abidi, C. A. Burckle, C. Lenski, H. Toriello, G. Wen, H. A. Lubs, S. Engert, R. E. Stevenson, A. Meindl, et al. (2005)
Hum. Mol. Genet. 14, 1019-1027
   Abstract »    Full Text »    PDF »
A simple answer for a splicing conundrum.
D. L. Black (2005)
PNAS 102, 4927-4928
   Full Text »    PDF »
Linking C5 Deficiency to an Exonic Splicing Enhancer Mutation.
N. Pfarr, D. Prawitt, M. Kirschfink, C. Schroff, M. Knuf, P. Habermehl, W. Mannhardt, F. Zepp, W. Fairbrother, M. Loos, et al. (2005)
J. Immunol. 174, 4172-4177
   Abstract »    Full Text »    PDF »
A microarray configuration to quantify expression levels and relative abundance of splice variants.
P. Fehlbaum, C. Guihal, L. Bracco, and O. Cochet (2005)
Nucleic Acids Res. 33, e47
   Abstract »    Full Text »    PDF »
Identification and analysis of alternative splicing events conserved in human and mouse.
G. W. Yeo, E. Van Nostrand, D. Holste, T. Poggio, and C. B. Burge (2005)
PNAS 102, 2850-2855
   Abstract »    Full Text »    PDF »
The splicing regulatory element, UGCAUG, is phylogenetically and spatially conserved in introns that flank tissue-specific alternative exons.
S. Minovitsky, S. L. Gee, S. Schokrpur, I. Dubchak, and J. G. Conboy (2005)
Nucleic Acids Res. 33, 714-724
   Abstract »    Full Text »    PDF »
Nonsense-associated alternative splicing of T-cell receptor {beta} genes: No evidence for frame dependence.
F. MOHN, M. BUHLER, and O. MUHLEMANN (2005)
RNA 11, 147-156
   Abstract »    Full Text »    PDF »
Alternative splicing induced by nonsense mutations in the immunoglobulin {micro} VDJ exon is independent of truncation of the open reading frame.
M. BUHLER and O. MUHLEMANN (2005)
RNA 11, 139-146
   Abstract »    Full Text »    PDF »
Exonic splicing enhancers in fission yeast: functional conservation demonstrates an early evolutionary origin.
C. J. Webb, C. M. Romfo, W. J. van Heeckeren, and J. A. Wise (2005)
Genes & Dev. 19, 242-254
   Abstract »    Full Text »    PDF »
A large-scale analysis of mRNA polyadenylation of human and mouse genes.
B. Tian, J. Hu, H. Zhang, and C. S. Lutz (2005)
Nucleic Acids Res. 33, 201-212
   Abstract »    Full Text »    PDF »
A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing?.
A. Skandalis and E. Uribe (2004)
Nucleic Acids Res. 32, 6557-6564
   Abstract »    Full Text »    PDF »
Branch site haplotypes that control alternative splicing.
J. Kralovicova, S. Houngninou-Molango, A. Kramer, and I. Vorechovsky (2004)
Hum. Mol. Genet. 13, 3189-3202
   Abstract »    Full Text »    PDF »
Variants in Optineurin Gene and Their Association with Tumor Necrosis Factor-{alpha} Polymorphisms in Japanese Patients with Glaucoma.
T. Funayama, K. Ishikawa, Y. Ohtake, T. Tanino, D. Kurosaka, I. Kimura, K. Suzuki, H. Ideta, K. Nakamoto, N. Yasuda, et al. (2004)
Invest. Ophthalmol. Vis. Sci. 45, 4359-4367
   Abstract »    Full Text »    PDF »
Variation in sequence and organization of splicing regulatory elements in vertebrate genes.
G. Yeo, S. Hoon, B. Venkatesh, and C. B. Burge (2004)
PNAS 101, 15700-15705