Proteomics

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Interactome analysis of FAM50A via affinity purification coupled to mass spectrometry

ABSTRACT: FAM50A missense variants are present in Armfield XLID syndrome patients. Zebrafish lacking fam50a display related phenotypes and show dysregulation of the transcriptome, increased spliceosome mRNAs and a preponderance of 3’ alternative splicing events, suggesting a role for Fam50a in the spliceosome C complex. Fam50A protein-protein interaction studies show that in 293T cells FAM50A interacts with spliceosome components. In sum, aberrant mRNA processing caused by FAM50A mutation underpins Armfield XLID syndrome.

INSTRUMENT(S): Orbitrap Fusion

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Hek-293t Cell

SUBMITTER: James Wright  

LAB HEAD: Jyoti Choudhary

PROVIDER: PXD017642 | Pride | 2020-05-08

REPOSITORIES: Pride

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Publications

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Lee Yu-Ri YR   Khan Kamal K   Armfield-Uhas Kim K   Srikanth Sujata S   Thompson Nicola A NA   Pardo Mercedes M   Yu Lu L   Norris Joy W JW   Peng Yunhui Y   Gripp Karen W KW   Aleck Kirk A KA   Li Chumei C   Spence Ed E   Choi Tae-Ik TI   Kwon Soo Jeong SJ   Park Hee-Moon HM   Yu Daseuli D   Heo Won Do WD   Mooney Marie R MR   Baig Shahid M SM   Wentzensen Ingrid M IM   Telegrafi Aida A   McWalter Kirsty K   Moreland Trevor T   Roadhouse Chelsea C   Ramsey Keri K   Lyons Michael J MJ   Skinner Cindy C   Alexov Emil E   Katsanis Nicholas N   Stevenson Roger E RE   Choudhary Jyoti S JS   Adams David J DJ   Kim Cheol-Hee CH   Davis Erica E EE   Schwartz Charles E CE  

Nature communications 20200723 1

Intellectual 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 hypomo  ...[more]

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