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In human red blood cells (RBCs), NMIIA assembles into bipolar filaments and binds to actin filaments (F\u2010actin) in the spectrin\u2010F\u2010actin membrane skeleton to control RBC biconcave disk shape and deformability. Here, we tested the effects of <jats:italic>MYH9<\/jats:italic> mutations in different NMIIA domains (motor, coiled\u2010coil rod, or non\u2010helical tail) on RBC NMIIA function. We found that <jats:italic>MYH9<\/jats:italic>\u2010RD does not cause clinically significant anemia and that patient RBCs have normal osmotic deformability as well as normal membrane skeleton composition and micron\u2010scale distribution. However, analysis of complete blood count data and peripheral blood smears revealed reduced hemoglobin content and elongated shapes, respectively, of <jats:italic>MYH9<\/jats:italic>\u2010RD RBCs. Patients with mutations in the NMIIA motor domain had the highest numbers of elongated RBCs. Patients with mutations in the motor domain also had elevated association of NMIIA with F\u2010actin at the RBC membrane. Our findings support a central role for motor domain activity in NMIIA regulation of RBC shape and define a new sub\u2010clinical phenotype of <jats:italic>MYH9<\/jats:italic>\u2010RD.<\/jats:p>","DOI":"10.1002\/ajh.25472","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T00:18:14Z","timestamp":1553732294000},"page":"667-677","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["<i>MYH9<\/i>\u2010related disease mutations cause abnormal red blood cell morphology through increased myosin\u2010actin binding at the membrane"],"prefix":"10.1002","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7444-9327","authenticated-orcid":false,"given":"Alyson S.","family":"Smith","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine The Scripps Research Institute  La Jolla California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7328-5153","authenticated-orcid":false,"given":"Kasturi","family":"Pal","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine The Scripps Research Institute  La Jolla California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta B.","family":"Nowak","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine The Scripps Research Institute  La Jolla California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasiya","family":"Demenko","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine The Scripps Research Institute  La Jolla California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Zaninetti","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine IRCCS Policlinico San Matteo Foundation and University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"Da Costa","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service d'H\u00e9matologie Biologique H\u00f4pital R. Debr\u00e9  Paris France"},{"name":"Universit\u00e9 Paris 7 Sorbonne Paris Cit\u00e9  Paris France"},{"name":"INSERM U1134 INTS  Paris France"},{"name":"Laboratoire d'Excellence GR\u2010Ex  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1850-6686","authenticated-orcid":false,"given":"Remi","family":"Favier","sequence":"additional","affiliation":[{"name":"Assistance Publique\u2010H\u00f4pitaux de Paris, Armand Trousseau Children Hospital French Reference Center for platelet disorders  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9202-7013","authenticated-orcid":false,"given":"Alessandro","family":"Pecci","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine IRCCS Policlinico San Matteo Foundation and University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velia M.","family":"Fowler","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine The Scripps Research Institute  La Jolla California"},{"name":"Department of Biological Sciences University of Delaware  Newark Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/79069"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/79063"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170007"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12196"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e32833c069c"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1220327"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309981200"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.04.048"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M005585200"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81598-6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2003.10.013"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403002101"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22476"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.4161\/bioa.26133"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.68"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-01-330688"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.107.11.3077"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2007.06.006"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.100.1.47"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1718285115"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-417027-8.00002-7"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0000000000000227"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-07-161166"},{"issue":"1","key":"e_1_2_6_25_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/S0021-9258(18)89689-2","article-title":"Myosin from human erythrocytes","volume":"260","author":"Wong AJ","year":"1985","journal-title":"J Biol Chem"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M208506200"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-06-2067"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI101847"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2015.09.001"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/166988a0"},{"issue":"9","key":"e_1_2_6_31_1","doi-asserted-by":"crossref","first-page":"5978","DOI":"10.1016\/S0021-9258(18)91110-5","article-title":"Erythrocyte membrane tropomyosin. 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