Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?

AMP-Activated Protein Kinase Kinases Alternative Splicing Codon, Nonsense Humans Nucleotides Peutz-Jeghers Syndrome / genetics
PJS STK11 cryptic splice acceptor nonsense mediated mRNA decay tandem splice sites

Journal

American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741

Informations de publication

Date de publication:
10 2022
Historique:
revised: 14 07 2022
received: 23 03 2022
accepted: 23 07 2022
pubmed: 11 8 2022
medline: 15 9 2022
entrez: 10 8 2022
Statut: ppublish

Résumé

Alternative use of short distance tandem sites such as NAGN

Identifiants

DOI: 10.1002/ajmg.a.62942 PMID: 35946377
pubmed: 35946377
doi: 10.1002/ajmg.a.62942
doi:

Substances chimiques

Codon, Nonsense 0
Nucleotides 0
AMP-Activated Protein Kinase Kinases EC 2.7.11.3

Types de publication

Case Reports Review Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

3089-3095

Informations de copyright

© 2022 Wiley Periodicals LLC.

Références

Abed, A. A., Gunther, K., Kraus, C., Hohenberger, W., & Ballhausen, W. G. (2001). Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597[insertion mark]598insIVS4). Human Mutation, 18(5), 397-410. https://doi.org/10.1002/humu.1211
Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, E., Santer, R., Propping, P., & Friedl, W. (2005). High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Human Mutation, 26(6), 513-519. https://doi.org/10.1002/humu.20253
Baralle, F. E., & Giudice, J. (2017). Alternative splicing as a regulator of development and tissue identity. Nature Reviews. Molecular Cell Biology, 18(7), 437-451. https://doi.org/10.1038/nrm.2017.27
Carvill, G. L., & Mefford, H. C. (2020). Poison exons in neurodevelopment and disease. Current Opinion in Genetics & Development, 65, 98-102. https://doi.org/10.1016/j.gde.2020.05.030
Hiller, M., Huse, K., Szafranski, K., Jahn, N., Hampe, J., Schreiber, S., Backofen, R., & Platzer, M. (2004). Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. Nature Genetics, 36(12), 1255-1257. https://doi.org/10.1038/ng1469
Huang, X., Wullschleger, S., Shpiro, N., McGuire, V. A., Sakamoto, K., Woods, Y. L., Mcburnie, W., Fleming, S., & Alessi, D. R. (2008). Important role of the LKB1-AMPK pathway in suppressing tumorigenesis in PTEN-deficient mice. Biochemical Journal, 412(2), 211-221. https://doi.org/10.1042/bj20080557
Hujova, P., Soucek, P., Radova, L., Kramarek, M., Kovacova, T., & Freiberger, T. (2021). Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites. Cellular and Molecular Life Sciences, 78(21-22), 6979-6993. https://doi.org/10.1007/s00018-021-03943-2
Karam, R., Conner, B., LaDuca, H., McGoldrick, K., Krempely, K., Richardson, M. E., Zimmermann, H., Gutierrez, S., Reineke, P., Hoang, L., Allen, K., Yussuf, A., Farber-Katz, S., Rana, H. Q., Culver, S., Lee, J., Nashed, S., Toppmeyer, D., Collins, D., … Chao, E. (2019). Assessment of diagnostic outcomes of RNA genetic testing for hereditary cancer. JAMA Network Open, 2(10), e1913900. https://doi.org/10.1001/jamanetworkopen.2019.13900
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., Gauthier, L. D., Brand, H., Solomonson, M., Watts, N. A., Rhodes, D., Singer-Berk, M., England, E. M., Seaby, E. G., … Kosmicki, J. A. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature, 581(7809), 434-443. https://doi.org/10.1038/s41586-020-2308-7
Kim, E., Magen, A., & Ast, G. (2007). Different levels of alternative splicing among eukaryotes. Nucleic Acids Research, 35(1), 125-131. https://doi.org/10.1093/nar/gkl924
McGarrity, T. J., Amos, C. I., & Baker, M. J. (1993). Peutz-Jeghers Syndrome. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, G. M. Mirzaa, & A. Amemiya (Eds.), GeneReviews([R]). University of Washington. https://www.ncbi.nlm.nih.gov/pubmed/20301443
Mironov, A., Denisov, S., Gress, A., Kalinina, O. V., & Pervouchine, D. D. (2021). An extended catalogue of tandem alternative splice sites in human tissue transcriptomes. PLoS Computational Biology, 17(4), e1008329. https://doi.org/10.1371/journal.pcbi.1008329
Miyaki, M., Iijima, T., Hosono, K., Ishii, R., Yasuno, M., Mori, T., Toi, M., Hishima, T., Shitara, N., Tamura, K., Utsunomiya, J., Kobayashi, N., Kuroki, T., & Iwama, T. (2000). Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. Cancer Research, 60(22), 6311-6313. https://www.ncbi.nlm.nih.gov/pubmed/11103790
Murdock, D. R., Dai, H., Burrage, L. C., Rosenfeld, J. A., Ketkar, S., Muller, M. F., Yepez, V. A., Gagneur, J., Liu, P., Chen, S., Jain, M., Zapata, G., Bacino, C. A., Chao, H. T., Moretti, P., Craigen, W. J., Hanchard, N. A., Undiagnosed Diseases Network, & Lee, B. (2021). Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. The Journal of Clinical Investigation, 131(1), e141500. https://doi.org/10.1172/JCI141500
Riepe, T. V., Khan, M., Roosing, S., Cremers, F. P. M., & t'Hoen, P. A. C. (2021). Benchmarking deep learning splice prediction tools using functional splice assays. Human Mutation, 42(7), 799-810. https://doi.org/10.1002/humu.24212
Takeda, H., Matsuzaki, T., Oki, T., Miyagawa, T., & Amanuma, H. (1994). A novel POU domain gene, zebrafish pou2: Expression and roles of two alternatively spliced twin products in early development. Genes & Development, 8(1), 45-59. https://doi.org/10.1101/gad.8.1.45
Terkelsen, T., Larsen, O. H., Vang, S., Jensen, U. B., & Wikman, F. (2020). Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3′ polypyrimidine tract of intron five. Molecular Genetics & Genomic Medicine, 8(9), e1381. https://doi.org/10.1002/mgg3.1381
Volikos, E., Robinson, J., Aittomaki, K., Mecklin, J. P., Jarvinen, H., Westerman, A. M., de Rooji, F. W., Vogel, T., Moeslein, G., Launonen, V., Tomlinson, I. P., Silver, A. R., & Aaltonen, L. A. (2006). LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. Journal of Medical Genetics, 43(5), e18. https://doi.org/10.1136/jmg.2005.039875
Wai, H. A., Lord, J., Lyon, M., Gunning, A., Kelly, H., Cibin, P., Seaby, E. G., Spiers-Fitzgerald, K., Lye, J., Ellard, S., Thomas, N. S., Bunyan, D. J., Douglas, A. G. L., Baralle, D., & Splicing & Disease Working Group. (2020). Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. Genetics in Medicine, 22(6), 1005-1014. https://doi.org/10.1038/s41436-020-0766-9
Xu, Q., Belcastro, M. P., Villa, S. T., Dinkins, R. D., Clarke, S. G., & Downie, A. B. (2004). A second protein L-isoaspartyl methyltransferase gene in Arabidopsis produces two transcripts whose products are sequestered in the nucleus. Plant Physiology, 136(1), 2652-2664. https://doi.org/10.1104/pp.104.046094

Auteurs

Nour Gazzaz (N)

Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.

F Graeme Frost (FG)

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.

Emily Alderman (E)

Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Phillip A Richmond (PA)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Joshua Dalmann (J)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Susan Lin (S)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Areesha Salman (A)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Kate L Del Bel (KL)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Anna Lehman (A)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Stuart E Turvey (SE)

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Cornelius F Boerkoel (CF)

Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
ORCID: 0000-0003-3097-241X

Praveen F Cherukuri (PF)

Imagenetics, Sanford Health and Research Center and Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota, USA.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › AMP-activated protein kinase kinases › Can tandem alternative splicing and evasion of...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › Épissage alternatif › Can tandem alternative splicing and evasion of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Codon non-sens › Can tandem alternative splicing and evasion of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Can tandem alternative splicing and evasion of...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Can tandem alternative splicing and evasion of...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Hyperpigmentation › Mélanose › Lentigo › Syndrome de Peutz-Jeghers › Can tandem alternative splicing and evasion of...