{"id":"W4411070740","doi":"10.1101/2025.06.03.657633","title":"The Insertion of an ATTTC Repeat in an Alu Element Hyperactivates a Primate-Specific Neurodevelopmental Enhancer in Spinocerebellar Ataxia Type 37","year":2025,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; National Institute of Neurological Disorders and Stroke; European Regional Development Fund; “la Caixa” Foundation; Ministry of Education, Culture, Sports, Science and Technology; Ministério da Ciência, Tecnologia e Ensino Superior; European Commission; Fundação para a Ciência e a Tecnologia","keywords":"Enhancer; Spinocerebellar ataxia; Primate; Ataxia; Alu element; Biology; Genetics; Neuroscience; Gene; Genome; Transcription factor","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001786056,0.0002586204,0.0002123998,0.0002964259,0.0002172486,0.0002213873,0.0002357921,0.0002703083,0.002125317],"category_scores_gemma":[0.0001254218,0.0001362261,0.0003567391,0.0001458274,0.0003299724,0.00007540803,0.0003411454,0.0005497757,0.000569137],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004041957,"about_ca_system_score_gemma":0.0002872274,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001536366,"about_ca_topic_score_gemma":0.002686871,"domain_scores_codex":[0.9998206,0.00003247991,0.00001545558,0.00003715079,0.00005337514,0.00004085933],"domain_scores_gemma":[0.9998814,0.00004037948,0.00002311607,0.00001819856,0.0000054938,0.00003135492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005177655,0.00002139426,0.0003227738,0.0000203544,0.000007114957,0.0002619494,0.00002814796,0.00009378178,0.9978634,0.0001715951,0.00005823749,0.001099447],"study_design_scores_gemma":[0.00001372893,0.0001247712,0.008443448,0.0000145695,0.00002327609,0.0009173185,0.00007139602,0.001537371,0.9835988,0.0001871553,0.005059987,0.000008064311],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948958,0.0007954482,0.0020428,0.00009651211,0.00002735775,0.00001725805,0.0002433229,0.0001085006,0.00177291],"genre_scores_gemma":[0.9936465,0.0003514232,0.002637068,0.00008069102,0.00001034974,0.00001439725,0.0006371079,0.00006670466,0.002555799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002125317,"threshold_uncertainty_score":0.00710994,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02746885394570899,"score_gpt":0.267525430037243,"score_spread":0.240056576091534,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}