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Loss of SMN entirely is embryonic lethal in mammals. There are several SMN missense mutations found in humans. These alleles do not show partial function in the absence of wild-type SMN and cannot rescue a null Smn allele in mice. However, these human SMN missense allele transgenes can rescue a null Smn allele when SMN2 is present. We find that the N- and C-terminal regions constitute two independent domains of SMN that can be separated genetically and undergo intragenic complementation. These SMN protein heteromers restore snRNP assembly of Sm proteins onto snRNA and completely rescue both survival of Smn null mice and motor neuron electrophysiology demonstrating that the essential functional unit of SMN is the oligomer.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa235","type":"journal-article","created":{"date-parts":[[2020,10,16]],"date-time":"2020-10-16T19:12:47Z","timestamp":1602875567000},"page":"3493-3503","source":"Crossref","is-referenced-by-count":4,"title":["Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue <i>Smn<\/i> null mice"],"prefix":"10.1093","volume":"29","author":[{"given":"Vicki L","family":"McGovern","sequence":"first","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaitlyn M","family":"Kray","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W David","family":"Arnold","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra I","family":"Duque","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra C","family":"Iyer","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Massoni-Laporte","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen","family":"Workman","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aalapi","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J","family":"Battle","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur H M","family":"Burghes","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA"},{"name":"Department of Neurology, The Ohio State University, Columbus, OH 43210, USA"},{"name":"Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,10,21]]},"reference":[{"key":"2021010701305090000_ref1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1136\/adc.45.239.33","article-title":"The genetic component in child mortality","volume":"45","author":"Roberts","year":"1970","journal-title":"Arch. 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