Breuel S, Vorm M, Bräuer AU, Owczarek-Lipska M, Neidhardt J (2019) Combining engineered U1 snRNA and antisense oligonucleotides to improve the treatment of a BBS1 splice site mutation. Mol Ther Nucleic Acids 18:123–130
Article CAS PubMed PubMed Central Google Scholar
Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F (2022) PHF21A related disorder: Description of a new case. Int J Mol Sci 23(24):16130
Article PubMed PubMed Central Google Scholar
Caputo A, Schaffer AE (2025) Exploring the connection between RNA splicing and intellectual disability. Curr Opin Genet Dev 91(102322):102322
Article CAS PubMed PubMed Central Google Scholar
Chen H, Chen Y, Wu H, Qiu X, Yu X, Wang R, Zhong J, Peng J (2023) De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review. Seizure J British Epilepsy Assoc 111:138–146
Doyle, A. (1990). Establishment of lymphoblastoid cell lines. Methods in Molecular Biology (Clifton, N.J.), 5, 43–47.
Engal E, Zhang Z, Geminder O, Jaffe-Herman S, Kay G, Ben-Hur A, Salton M (2024) The spectrum of pre-mRNA splicing in autism. Wiley Interdiscip Rev RNA 15(2):e1838
Article CAS PubMed Google Scholar
Garay PM, Chen A, Tsukahara T, Rodríguez Díaz JC, Kohen R, Althaus JC, Wallner MA, Giger RJ, Jones KS, Sutton MA, Iwase S (2020) RAI1 regulates activity-dependent nascent transcription and synaptic scaling. Cell Rep 32(6):108002
Article CAS PubMed PubMed Central Google Scholar
Geierstanger BH, Volkman BF, Kremer W, Wemmer DE (1994) Short peptide fragments derived from HMG-I/Y proteins bind specifically to the minor groove of DNA. Biochemistry 33(17):5347–5355
Article CAS PubMed Google Scholar
Hakimi M-A, Bochar DA, Chenoweth J, Lane WS, Mandel G, Shiekhattar R (2002) A core–BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes. Proc Natl Acad Sci 99(11):7420–7425
Article CAS PubMed PubMed Central Google Scholar
Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Matsumoto N (2019) De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. Euro J Human Genet: EJHG 27(3):378–383
Hejla D, Huynh S, Samra S, Richmond PA, Dalmann J, Del Bel KL, Byres L, Lehman A, Turvey SE, Boerkoel CF (2024) Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis. Am J Med Genet A. https://doi.org/10.1002/ajmg.a.63548
Huth JR, Bewley CA, Nissen MS, Evans JN, Reeves R, Gronenborn AM, Clore GM (1997) The solution structure of an HMG-I(Y)-DNA complex defines a new architectural minor groove binding motif. Nat Struct Biol 4(8):657–665
Article CAS PubMed Google Scholar
Irimia M, Weatheritt RJ, Ellis JD, Parikshak NN, Gonatopoulos-Pournatzis T, Babor M, Quesnel-Vallières M, Tapial J, Raj B, O’Hanlon D, Barrios-Rodiles M, Sternberg MJE, Cordes SP, Roth FP, Wrana JL, Geschwind DH, Blencowe BJ (2014) A highly conserved program of neuronal microexons is misregulated in autistic brains. Cell 159(7):1511–1523
Article CAS PubMed PubMed Central Google Scholar
Iwase S, Januma A, Miyamoto K, Shono N, Honda A, Yanagisawa J, Baba T (2004) Characterization of BHC80 in BRAF–HDAC complex, involved in neuron-specific gene repression. Biochem Biophys Res Commun 322(2):601–608
Article CAS PubMed Google Scholar
Iwase S, Shono N, Honda A, Nakanishi T, Kashiwabara S-I, Takahashi S, Baba T (2006) A component of BRAF-HDAC complex, BHC80, is required for neonatal survival in mice. FEBS Lett 580(13):3129–3135
Article CAS PubMed Google Scholar
Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, Darbandi SF, Knowles D, Li YI, Kosmicki JA, Arbelaez J, Cui W, Schwartz GB, Chow ED, Kanterakis E, Gao H, Kia A, Batzoglou S, Sanders SJ, Farh KK-H (2019) Predicting splicing from primary sequence with deep learning. Cell 176(3):535-548.e24
Article CAS PubMed Google Scholar
Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY, Darnell RB (2000) Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability. Neuron 25(2):359–371
Article CAS PubMed Google Scholar
Kim D, Langmead B, Salzberg SL (2015) HISAT: a fast spliced aligner with low memory requirements. Nature Methods 12(4):357–360
Article CAS PubMed PubMed Central Google Scholar
Kim H-G, Kim H-T, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee J-H, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Gusella JF (2012) Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Human Genet 91(1):56–72
Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel Al, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Kim CH (2019) Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Mol Autism 10(1):35
Article CAS PubMed PubMed Central Google Scholar
Klein JS, Jiang S, Galimidi RP, Keeffe JR, Bjorkman PJ (2014) Design and characterization of structured protein linkers with differing flexibilities. Protein Eng Design Select PEDS 27(10):325–330
Kondo Y, Oubridge C, van Roon A-MM, Nagai K (2015) Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5’ splice site recognition. Elife. https://doi.org/10.7554/eLife.04986
Article PubMed PubMed Central Google Scholar
Lan F, Collins RE, De Cegli R, Alpatov R, Horton JR, Shi X, Gozani O, Cheng X, Shi Y (2007) Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression. Nature 448(7154):718–722
Article CAS PubMed PubMed Central Google Scholar
Langmead B, Salzberg SL (2012) Fast gapped-read alignment with Bowtie 2. Nat Methods 9(4):357–359
Article CAS PubMed PubMed Central Google Scholar
Laurent B, Ruitu L, Murn J, Hempel K, Ferrao R, Xiang Y, Liu S, Garcia BA, Wu H, Wu F, Steen H, Shi Y (2015) A specific LSD1/KDM1A isoform regulates neuronal differentiation through H3K9 demethylation. Molecular Cell 57(6):957–970
Article CAS PubMed PubMed Central Google Scholar
Lerner MR, Boyle JA, Mount SM, Wolin SL, Steitz JA (1980) Are snRNPs involved in splicing? Nature 283(5743):220–224
Article CAS PubMed Google Scholar
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, 1000 Genome Project Data Processing Subgroup (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25(16):2078–2079
Article PubMed PubMed Central Google Scholar
Li YI, Sanchez-Pulido L, Haerty W, Ponting CP (2015) RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts. Genome Res 25(1):1–13
Article PubMed PubMed Central Google Scholar
Li Y, Xie N, Chen R, Lee AR, Lovnicki J, Morrison EA, Fazli L, Zhang Q, Musselman CA, Wang Y, Huang J, Gleave ME, Collins C, Dong X (2019) RNA splicing of the BHC80 gene contributes to neuroendocrine prostate cancer progression. Eur Urol 76(2):157–166
Comments (0)