Publications

List of papers and PhD theses
Published papers

2025

Norppa AJ, Shcherbii  MV & Frilander MJ (2025). Connecting genotype and phenotype in minor spliceosome diseases.

2024

Norppa AJ, Chowdhury I, Van Rooijen LE, Ravantti JJ, Snel B, Varjosalo M, & Frilander MJ (2024). Distinct functions for the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome. .

2023

Mönttinen, H.a.M., Frilander, M.J., & Löytynoja, A. (2023). Generation of de novo miRNAs from template switching during DNA replication.

2022

Kashkan I, Hrtyan M, Retzer K, Humpolíčková J, Jayasree A, Filepová R, Vondráková Z, Simon S, Rombaut D, Jacobs TB, Frilander MJ, Hejátko J, Friml J, Petrášek J & Růžička K (2022). Mutually opposing activity of PIN7 splicing isoforms is required for auxin-mediated tropic responses in Arabidopsis thaliana..

Smolander OP, Blande D, Ahola V, Rastas P, Tanskanen J, Kammonen JI, Oostra V, Pellegrini L, Ikonen S, Dallas T, DiLeo MF, Duplouy A, Duru IC, Halimaa P, Kahilainen A, Kuwar SS, Kärenlampi SO, Lafuente E, Luo S, Makkonen J, Nair A, de la Paz Celorio-Mancera M, Pennanen V, Ruokolainen A, Sundell T, Tervahauta AI, Twort V, van Bergen E, Österman-Udd J, Paulin L, Frilander MJ, Auvinen P & Saastamoinen M (2022). Improved chromosome-level genome assembly of the Glanville fritillary butterfly (Melitaea cinxia) integrating Pacific Biosciences long reads and a high-density linkage map. .

2021

de Wolf, B, Oghabian A, Akinyi MV, Hanks S, Tromer EC, van Hooff J, van Voorthuijsen L, van Rooijen LE, Verbeeren J, Uijttewaal ECH, Baltissen MPA, Yost S, Piloquet P, Vermeulen M, Snel B, Isidor B, Rahman N, Frilander MJ & Kops GJPL (2021). Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. .

Norppa AJ & Frilander MJ (2021). The integrity of the U12 snRNA 3′ stem–loop is necessary for its overall stability. .

Akinyi MV & Frilander MJ (2021). At the Intersection of Major and Minor Spliceosomes: Crosstalk Mechanisms and Their Impact on Gene Expression. .

2020

Frilander M.J.  & Barborič M. (2020). The Interlocking Lives of LARP7: Fine-Tuning Transcription, RNA Modification, and Splicing through Multiple Non-coding RNAs. .

2019

Viita, T., Kyheröinen, S., Prajapati, B., Virtanen, J., Frilander, M.J., Varjosalo, M. & Vartiainen, M.K. (2019). Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing. .

Susi, H., Filloux, D., Frilander, M.J., Roumagnac, P. & Laine, A.-L. . (2019). Diverse and variable virus communities in wild plant populations revealed by metagenomic tools.

Brown, P., RELISH Consortium, Zhou, Y. (2019). Large expert-curated database for benchmarking document similarity detection in biomedical literature search.

2018

Oghabian, A. Greco, D. & Frilander, M.J. (2018). IntEREst: Intron-Exon Retention Estimator.  Software available at and

Norppa, A.J., Kauppala, T.M., Heikkinen, H.A.,Verma, B., Iwaï, H. & Frilander, M.J. (2018). Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.

Jutzi, D., Akinyi, M.V., Mechtersheimer, J., Frilander, M.J. & Ruepp M.-D. (2018). The emerging role of minor intron splicing in neurological disorders.

Verma, B., Norppa, A.J., Akinyi, M.V. & Frilander, M.J. (2018). Minor spliceosome and disease.

Martos-Moreno, G.Á., Travieso-Suárez, L., Pozo-Román, J., Muñoz-Calvo, M.T., Chowen, J.A., Frilander, M.J., Pérez-Jurado, L.A., Hawkins, F.G., and Argente, J.(2018). Response to growth hormone in patients with RNPC3 mutations.

Orsini L, Brown J.B., Solari O.S., Li D., He S., Podicheti R., Stoiber M.H., Spanier K.I., Gilbert D., Jansen M., Rusch D., Pfrender M.E, Colbourne J.K., Frilander M.J., Kvist J., Decaestecker E., De Schamphelaere K.A.C, De Meester L. (2018). Early transcriptional response pathways in Daphnia magna are coordinated in networks of crustacean specific genes.
See by Stanford & Rogers.

2017

Verbeeren, J., Verma, B., Niemelä, E.H., Yap, K., Makeyev, E.V., and Frilander, M.J. (2017). Alternative exon definition events control the choice between nuclear retention and cytoplasmic export of U11/U12-65K mRNA.

Susi, H., Laine, A.-L., Filloux, D., Kraberger, S., Farkas, K., Bernardo, P., Frilander, M.J., Martin, D.P., Varsani, A., and Roumagnac, P. (2017). Genome sequences of a capulavirus infecting Plantago lanceolata in the Åland archipelago of Finland.

Ahola, V., Wahlberg, N. & Frilander, M. J. (2017): Butterfly genomics: insights from the genome of Melitaea cinxia.

2016

Orsini, L., Gilbert, D., Podicheti, R., Jansen, M., Brown, J.B., Solari, O.S., Spanier, K.I., Colbourne, J.K., Rush, D., Decaestecker, E., Asselman, J., De Schamphelaere, K.A.C., Ebert, D., Haag, C.R., Kvist, J., Laforsch, C., Petrusek, A., Beckerman, A.P., Little, T.J., Chaturvedi, A., Pfrender, M.E., De Meester, L., and Frilander, M.J. (2016). Daphnia magna transcriptome by RNA-Seq across 12 environmental stressors.

Känsäkoski J, Jääskeläinen J, Jääskeläinen T, Tommiska J, Saarinen L, Lehtonen R, Hautaniemi S, Frilander MJ, Palvimo JJ, Toppari J, and Raivio T (2016). Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene.
 

2015

Niemelä E.H., Verbeeren, J., Singha, P., Nurmi V. and Frilander, M.J. (2015). Evolutionarily conserved exon definition interactions with U11 snRNP mediate alternative splicing regulation on U11-48K and U11/U12-65K genes.

Kvist J., Mattila A.L.K., Somervuo P., Ahola V., Koskinen P., Paulin L., Salmela L., Taipale M., Holm L., Auvinen P., Lehtonen R., Frilander M.J, Hanski I. (2015). Flight-induced changes in gene expression in the Glanville fritillary butterfly.

Ahola V., Koskinen P., Wong S.C., Kvist J., Paulin L, Auvinen P., Saastamoinen M., Frilander M.J., Lehtonen R., Hanski I. (2015). Temperature and sex related effects of serine protease alleles on larval development in the Glanville fritillary butterfly.

2014

Argente, J., Flores, R., Gutiérrez-Arumí, A., Verma, B., Martos-Moreno, G.A., Cuscó, I., Oghabian, A., Chowen, J.A., Frilander, M.J., and Pérez-Jurado, L.A. (2014). Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.

Niemelä, E.H., Frilander, M.J. (2014). Regulation of gene expression through inefficient splicing of U12-type introns.

Niemelä, E.H., Oghabian, A., Staals, R.H.J., Pruijn, G. and Frilander, M.J. (2014). Global analysis of the nuclear processing of unspliced U12-type introns by the exosome.

Mikkilä, J., Eskelinen, A.-P., Niemelä, E.H., Linko, V., Frilander, M.J., Törmä, P., and Kostiainen, M.A. (2014). Virus-Encapsulated DNA Origami Nanostructures for Cellular Delivery.

Turunen, J.J., Pavlova, L.V., Hengesbach, M., Helm, M., Müller, S., Hartmann, R.K. and Frilander, M.J. (2014) RNA ligation. In Hartmann, R. K., Bindereif, A., Schön, A. and Westhof, E. (eds.),

Somervuo P., Kvist J., Ikonen S., Ahonla V., Auvinen P., Paulin L., Koskinen P., Holm L., Taipale M., Ruokolainen A., Saarnio S., Taipale J., Sirén J., Corander J., Frilander M.J., Lehtonen R. & Hanski I. (2014) Transcriptome Analysis Reveals Signature of Adaptation to Landscape Fragmentation.

Ahola V., Lehtonen R., Somervuo P., Salmela L., Koskinen P., Rastas P., Välimäki N., Paulin L., Kvist J., Wahlberg N., Tanskanen J., Hornett E.A., Ferguson L.C., Luo S., Cao Z., de Jong M.A., Duplouy A., Smolander O-P., Vogel H., McCoy R.C., Qian K., Chong W.S., Zhang Q., Ahmad F., Haukka J.K., Josh A., Salojärvi J., Wheat C.W., Grosse-Wilde E., Hughes D., Katainen R., Pitkänen E., Ylinen J., Waterhouse R.M., Turunen M., Vähärautio A., Schulman A.H., Taipale M., Lawson D., Ukkonen E., Mäkinen V., Goldsmith M.R., Holm L., Auvinen P., Frilander M.J. & Hanski I. (2014). The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera. .

2013

Turunen, J.J., Verma, B., Nyman, T.A., and Frilander, M.J. (2013). HnRNPH1/H2, U1 snRNP and U11 snRNP co-operate to regulate the stability of the U11-48K pre-mRNA.

Turunen, J.J., Niemelä, E., Verma, B., and Frilander, M.J. (2013). The significant other: Splicing by the Minor Spliceosome.

Qian, K., Pietilä, T., Rönty, M., Michon, F., Frilander, M.J., Ritari, J., Tarkkanen, J., Paulín, L., Auvinen, P., and Auvinen, E. (2013). Identification and Validation of Human Papillomavirus Encoded microRNAs.

Kvist J., Wheat C.W., Kallioniemi E., Saastamoinen M., Hanski I. & Frilander M.J. (2013). Temperature treatments during larval development reveal extensive heritable and plastic variation in gene expression and life history traits.

2012

Tollenaere, C., Susi, H., Nokso-Koivisto, J., Koskinen, P. Tack, A. J. M., Auvinen, P. Paulin, L., Frilander, M. J., Lehtonen, R. & Laine, A.-L. (2012). SNP Design from 454 Sequencing of Podosphaera plantaginis Transcriptome Reveals a Genetically Diverse Pathogen Metapopulation with High Levels of Mixed-Genotype Infection.

2011

Pessa, H.K.J. & Frilander, M.J. (2011). Minor Splicing, Disrupted.  (Perspective).

Helenius K, Yang Y, Tselykh TV, Pessa HK, Frilander MJ, Mäkelä TP. (2011). Requirement of TFIIH kinase subunit Mat1 for RNA Pol II C-terminal domain Ser5 phosphorylation, transcription and mRNA turnover.

Saarikangas J, Mattila PK, Varjosalo M, Bovellan M, Hakanen J, Calzada-Wack J, Tost M, Jennen L, Rathkolb B, Hans W, Horsch M, Hyvönen ME, Perälä N, Fuchs H, Gailus-Durner V, Esposito I, Wolf E, de Angelis MH, Frilander MJ, Savilahti H, Sariola H, Sainio K, Lehtonen S, Taipale J, Salminen M, Lappalainen P. (2011). Missing-in-metastasis MIM/MTSS1 promotes actin assembly at intercellular junctions and is required for integrity of kidney epithelia.

Wheat CW, Fescemyer HW, Kvist J, Tas E, Vera JC, Frilander MJ, Hanski I, Marden JH. (2011). Functional genomics of life history variation in a butterfly metapopulation. See by Klepsatel & Flatt.

2010

Verbeeren J., Niemelä E.H., Turunen J.J., Will C.L., Ravantti J.J., Lührmann R. & Frilander M.J. (2010). An ancient mechanism for splicing control: U11 snRNP as an activator of alternative splicing.

Pessa, H.K.J., Greco D., Kvist J., Wahlström G., Heino T.I., Auvinen P. & Frilander M.J. (2010). Gene Expression Profiling of U12-Type Spliceosome Mutant Drosophila Reveals Widespread Changes in Metabolic Pathways.

Michon F., Kyyrönen M., Tummers M., Frilander M.J. & Thesleff I. (2010). Tooth morphogenesis and ameloblast differentiation are regulated by micro-RNAs.

Wheat C.W., Haag C., Marden J., Hanski I. & Frilander M.J. (2010). Molecular evidence for balancing selection at a candidate gene (Pgi) influencing ecological dynamics in a butterfly metapopulation.

2009

Sundström J.F., Vaculova A., Smertenko A.P., Savenkov E.I., Golovko A., Minina E., Tiwari B.S., Rodriguez-Nieto S., Zamyatnin A.A. Jr., Välineva T., Saarikettu J., Frilander M.J., Suarez M.F., Zavialov A., Ståhl U., Hussey P.J., Silvennoinen O., Sundberg E., Zhivotovsky B. & Bozhkov P.V. (2009). Tudor staphylococcal nuclease is an evolutionarily conserved component of the programmed cell death degradome.

Orsini L., Wheat C.W., Haag C.R., Kvist J., Frilander M.J. & Hanski, I. (2009). Fitness differences associated with Pgi SNP genotypes in the Glanville fritillary butterfly (Melitaea cinxia).

2008

Pessa, H.K.J., Will, C.L., Meng, X., Schneider, C., Watkins, N.J., Perälä, N., Nymark, M., Turunen, J.J., Lührmann, R. & Frilander, M.J. (2008). Minor spliceosome components are predominantly localized in the nucleus.   See by Joan Steitz et al.

Turunen J.J., Will C.L., Grote M., Lührmann R. & Frilander M.J. (2008). The U11-48K protein contacts the 5' splice site of U12-type introns and the U11-59K protein.

Paatero A.O., Turakainen H., Happonen L.J., Olsson C., Palomäki T., Pajunen M.I., Meng X., Otonkoski T., Tuuri T., Berry C., Malani N., Frilander M.J., Bushman F.D. & Savilahti H. (2008). Bacteriophage Mu integration in yeast and mammalian genomes.

Marden J.H., Fescemyer H.W., Saastamoinen M., MacFarland S.P., Vera J.C., Frilander M.J., & Hanski I. (2008). Weight and nutrition affect pre-mRNA splicing associated with energetics and life history.

Vera J.C., Wheat C.W., Fescemyer H.W., Frilander M.J.,Crawford D.L., Hanski I. & Marden J.H. (2008). Rapid transcriptome characterization for a non-model organism using massively parallel 454 pyrosequencing. . See by Hans Ellegren.

2007

Yang, J., Välineva, T., Hong, J., Bu, T., Yao, Z. Jensen, O.N., Frilander, M.J. & Silvennoinen, O. (2007). Transcriptional coactivator protein p100 interacts with snRNP proteins and facilitates the assembly of the spliceosome.  .

2006

Pessa, H.K.J, Ruokolainen, A., & Frilander M.J. (2006). The abundance of the spliceosomal snRNPs is not limiting the splicing of U12-type introns. .

2005

Frilander, M.J. & Meng, X. (2005). Proximity of the U12 snRNA with both the 5' splice site and the branch point during early stages of spliceosome assembly. .

Frilander, M.J. & Turunen J.J. (2005). RNA ligation by T4 DNA ligase. In (Bindereif, A, Hartmann, R, Schön, A, & Westhof, E. Eds.), pp. 36-52. ISBN 3-527-30826-1. Wiley_VCH, Weinheim, Germany.

2004

Schneider, C., Will, C.L., Watkins, N.J., Brosius, J, Frilander, M.J. & Lührmann, R. (2004). Identification of an evolutionarily divergent U11 small nuclear ribonucleoprotein particle in Drosophila.

2002

Pirttimaa, M.J., Paatero, A.O., Frilander, M.J., & Bamford, D.H. (2002). Nonspecific NTPase P4 of dsRNA bacteriophage phi6 is required for ssRNA packaging and transcription.

McConnell, T.S., Cho, S.J., Frilander, M.J. & Steitz, J.A. (2002). Branch point selection in the splicing of U12-dependent introns in vitro.

2001

Frilander, M.J. & Steitz, J.A. (2001). Dynamic exchanges of RNA interactions leading to catalytic core formation in the U12-dependent spliceosome.

1999

Frilander, M.J. & Steitz, J.A. (1999). Initial recognition of U12-dependent introns requires both U11/5' splice site and U12/branchpoint interactions.

Full list of publication with citation data:







   



PhD Theses

Heli Pessa (2010)


Janne Turunen (2012)


Elina Niemelä (2014)


Jouni Kvist (2014)


Jens Verbeeren (2016)


Ali Oghabian (2018)

Antto Norppa (2023) 

Other publications

Frilander, M.J. Ribosomi osoittautui RNA-entsyymiksi. (2001). Duodecim, 117, 7-8 (Editorial in Finnish).

Frilander M.J. RNA - elämän alkuperän kemia (2002). Duodecim, 118:2419-2422. (Review in Finnish).

Mikko Frilander & Reetta Kettunen. Vieraskynä: Hiiren perimä kertoo yhtä lailla ihmisestä. Helsingin sanomat 27.12. 2002 (Editorial in a national newspaper)



Sariola H., Frilander M., Heino T., Jernvall J., Partanen J., Sainio K., Salminen M. & Thesleff I. (2003). Kehitysbiologia: Solusta yksilöksi. Kustannus Oy Duodecim, Helsinki. 311 pages. ISBN 951-656-099-7. (Developmental biology textbook in Finnish).

Frilander M. J. (2006). DNA ja geenisäätelyn periaatteet. In Perinnöllisyyslääketiede (P. Aula, H. Kääriäinen and A. Palotie ed.). Vol 3, pp. 1-30. Kustannus Oy Duodecim, Helsinki, Finland. (A chapter in a medical genetic textbook).

Frilander M.J. (2008). Täpläverkkoperhonen liiti genomiaikaan. Duodecim, 124, 2242-2243.

Frilander M.J. (2009). Kemian Nobel-palkinto ribosomien rakenteen selvittäjille. Duodecim, 125, 2476-2477.