Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

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dc.contributor.authorLee, Yu-Riko
dc.contributor.authorKhan, Kamalko
dc.contributor.authorArmfield-Uhas, Kimko
dc.contributor.authorSrikanth, Sujatako
dc.contributor.authorThompson, Nicola A.ko
dc.contributor.authorPardo, Mercedesko
dc.contributor.authorYu, Luko
dc.contributor.authorNorris, Joy W.ko
dc.contributor.authorPeng, Yunhuiko
dc.contributor.authorGripp, Karen W.ko
dc.contributor.authorAleck, Kirk A.ko
dc.contributor.authorLi, Chumeiko
dc.contributor.authorSpence, Edko
dc.contributor.authorChoi, Tae-Ikko
dc.contributor.authorKwon, Soo Jeongko
dc.contributor.authorPark, Hee-Moonko
dc.contributor.authorYu, Daseuliko
dc.contributor.authorHeo, Wonko
dc.contributor.authorMooney, Marie R.ko
dc.contributor.authorBaig, Shahid M.ko
dc.contributor.authorWentzensen, Ingrid M.ko
dc.contributor.authorTelegrafi, Aidako
dc.contributor.authorMcWalter, Kirstyko
dc.contributor.authorMoreland, Trevorko
dc.contributor.authorRoadhouse, Chelseako
dc.contributor.authorRamsey, Keriko
dc.contributor.authorLyons, Michael J.ko
dc.contributor.authorSkinner, Cindyko
dc.contributor.authorAlexov, Emilko
dc.contributor.authorKatsanis, Nicholasko
dc.contributor.authorStevenson, Roger E.ko
dc.contributor.authorChoudhary, Jyoti S.ko
dc.contributor.authorAdams, David J.ko
dc.contributor.authorKim, Cheol-Heeko
dc.contributor.authorDavis, Erica E.ko
dc.contributor.authorSchwartz, Charles E.ko
dc.date.accessioned2020-09-18T04:01:15Z-
dc.date.available2020-09-18T04:01:15Z-
dc.date.created2020-08-24-
dc.date.issued2020-07-
dc.identifier.citationNATURE COMMUNICATIONS, v.11, no.1-
dc.identifier.issn2041-1723-
dc.identifier.urihttp://hdl.handle.net/10203/276105-
dc.description.abstractIntellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation assays indicate that the patient-derived variants are hypomorphic. RNA sequencing analysis from fam50a KO zebrafish show dysregulation of the transcriptome, with augmented spliceosome mRNAs and depletion of transcripts involved in neurodevelopment. Zebrafish RNA-seq datasets show a preponderance of 3' alternative splicing events in fam50a KO, suggesting a role in the spliceosome C complex. These data are supported with transcriptomic signatures from cell lines derived from affected individuals and FAM50A protein-protein interaction data. In sum, Armfield XLID syndrome is a spliceosomopathy associated with aberrant mRNA processing during development.-
dc.languageEnglish-
dc.publisherNATURE PUBLISHING GROUP-
dc.titleMutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy-
dc.typeArticle-
dc.identifier.wosid000555450000001-
dc.identifier.scopusid2-s2.0-85088403329-
dc.type.rimsART-
dc.citation.volume11-
dc.citation.issue1-
dc.citation.publicationnameNATURE COMMUNICATIONS-
dc.identifier.doi10.1038/s41467-020-17452-6-
dc.contributor.localauthorHeo, Won-
dc.contributor.nonIdAuthorLee, Yu-Ri-
dc.contributor.nonIdAuthorKhan, Kamal-
dc.contributor.nonIdAuthorArmfield-Uhas, Kim-
dc.contributor.nonIdAuthorSrikanth, Sujata-
dc.contributor.nonIdAuthorThompson, Nicola A.-
dc.contributor.nonIdAuthorPardo, Mercedes-
dc.contributor.nonIdAuthorYu, Lu-
dc.contributor.nonIdAuthorNorris, Joy W.-
dc.contributor.nonIdAuthorPeng, Yunhui-
dc.contributor.nonIdAuthorGripp, Karen W.-
dc.contributor.nonIdAuthorAleck, Kirk A.-
dc.contributor.nonIdAuthorLi, Chumei-
dc.contributor.nonIdAuthorSpence, Ed-
dc.contributor.nonIdAuthorChoi, Tae-Ik-
dc.contributor.nonIdAuthorKwon, Soo Jeong-
dc.contributor.nonIdAuthorPark, Hee-Moon-
dc.contributor.nonIdAuthorMooney, Marie R.-
dc.contributor.nonIdAuthorBaig, Shahid M.-
dc.contributor.nonIdAuthorWentzensen, Ingrid M.-
dc.contributor.nonIdAuthorTelegrafi, Aida-
dc.contributor.nonIdAuthorMcWalter, Kirsty-
dc.contributor.nonIdAuthorMoreland, Trevor-
dc.contributor.nonIdAuthorRoadhouse, Chelsea-
dc.contributor.nonIdAuthorRamsey, Keri-
dc.contributor.nonIdAuthorLyons, Michael J.-
dc.contributor.nonIdAuthorSkinner, Cindy-
dc.contributor.nonIdAuthorAlexov, Emil-
dc.contributor.nonIdAuthorKatsanis, Nicholas-
dc.contributor.nonIdAuthorStevenson, Roger E.-
dc.contributor.nonIdAuthorChoudhary, Jyoti S.-
dc.contributor.nonIdAuthorAdams, David J.-
dc.contributor.nonIdAuthorKim, Cheol-Hee-
dc.contributor.nonIdAuthorDavis, Erica E.-
dc.contributor.nonIdAuthorSchwartz, Charles E.-
dc.description.isOpenAccessY-
dc.type.journalArticleArticle-
dc.subject.keywordPlusPROTEIN STABILITY-
dc.subject.keywordPlusZEBRAFISH-
dc.subject.keywordPlusGENE-
dc.subject.keywordPlusSERVER-
dc.subject.keywordPlusELECTROPHORESIS-
dc.subject.keywordPlusIDENTIFICATION-
dc.subject.keywordPlusPREDICTION-
dc.subject.keywordPlusPATHWAY-
dc.subject.keywordPlusLEADS-
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