Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

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dc.citation.issue2
dc.citation.volume39
dc.contributor.authorMoyses-Oliveira, Mariana [UNIFESP]
dc.contributor.authorGiannuzzi, Giuliana
dc.contributor.authorFish, Richard J.
dc.contributor.authorRosenfeld, Jill A.
dc.contributor.authorPetit, Florence
dc.contributor.authorSoares, Maria de Fatima [UNIFESP]
dc.contributor.authorKulikowski, Leslie Domenici
dc.contributor.authorDi-Battista, Adriana [UNIFESP]
dc.contributor.authorZamariolli, Malu [UNIFESP]
dc.contributor.authorXia, Fan
dc.contributor.authorLiehr, Thomas
dc.contributor.authorKosyakova, Nadezda
dc.contributor.authorCarvalheira, Gianna [UNIFESP]
dc.contributor.authorParker, Michael
dc.contributor.authorSeaby, Eleanor G.
dc.contributor.authorEnnis, Sarah
dc.contributor.authorGilbert, Rodney D.
dc.contributor.authorHagelstrom, R. Tanner
dc.contributor.authorCremona, Maria L.
dc.contributor.authorLi, Wenhui L.
dc.contributor.authorMalhotra, Alka
dc.contributor.authorChandrasekhar, Anjana
dc.contributor.authorPerry, Denise L.
dc.contributor.authorTaft, Ryan J.
dc.contributor.authorMcCarrier, Julie
dc.contributor.authorBasel, Donald G.
dc.contributor.authorAndrieux, Joris
dc.contributor.authorStumpp, Taiza
dc.contributor.authorAntunes, Fernanda [UNIFESP]
dc.contributor.authorPereira, Gustavo Jose [UNIFESP]
dc.contributor.authorNeerman-Arbez, Marguerite
dc.contributor.authorMeloni, Vera Ayres [UNIFESP]
dc.contributor.authorDrummond-Borg, Margaret
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.authorReymond, Alexandre
dc.coverageHoboken
dc.date.accessioned2020-07-08T13:09:50Z
dc.date.available2020-07-08T13:09:50Z
dc.date.issued2018
dc.description.abstractWe report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosomeen
dc.description.abstracttwo boys with maternally inherited and de novo nonsense variantsen
dc.description.abstractand two half-brothers with maternally inherited microdeletion variants. They present with short stature, cardiac and skeletal abnormalities, and hearing loss. Variants of unknown significance in AMMECR1 in four male patients from two families with partially overlapping phenotypes were previously reported. AMMECR1 is coexpressed with genes implicated in cell cycle regulation, five of which were previously associated with growth and bone alterations. Our knockdown of the zebrafish orthologous gene resulted in phenotypes reminiscent of patients' features. The increased transcript and encoded protein levels of AMMECR1L, an AMMECR1 paralog, in the t(X;9) patient's cells indicate a possible partial compensatory mechanism. AMMECR1 and AMMECR1L proteins dimerize and localize to the nucleus as suggested by their nucleic acid-binding RAGNYA folds. Our results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis.en
dc.description.affiliationUniv Fed Sao Paulo, Dept Morphol & Genet, Genet Div, Sao Paulo, Brazil
dc.description.affiliationUniv Lausanne, Ctr Integrat Genom, Lausanne, Switzerland
dc.description.affiliationUniv Geneva, Med Sch, Dept Genet Med & Dev, Geneva, Switzerland
dc.description.affiliationBaylor Coll Med, Dept Mol & Human Genet, Houston, TX USA
dc.description.affiliationCHU Lille, Hop Jeanne Flandre, Clin Genet, Lille, France
dc.description.affiliationUniv Fed Sao Paulo, Psychobiol Dept, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Hosp Clin, Fac Med, Dept Pathol,Lab Citogen,LIM 03, Sao Paulo, Brazil
dc.description.affiliationUniv Klinikum Jena, Inst Humangenet, Jena, Germany
dc.description.affiliationSheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England
dc.description.affiliationUniv Hosp Southampton, Genom Informat Grp, Southampton, Hants, England
dc.description.affiliationUniv Hosp Southampton, Southampton Childrens Hosp, Southampton, Hants, England
dc.description.affiliationIllumina Clin Serv Lab, San Diego, CA USA
dc.description.affiliationMed Coll Wisconsin, Dept Pediat, Sect Genet, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA
dc.description.affiliationCHU Lille, Hop Jeanne Flandre, Inst Genet Med, Lille, France
dc.description.affiliationUniv Fed Sao Paulo, Dev Biol Div, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Pharmacol, Sao Paulo, Brazil
dc.description.affiliationCook Childrens Genet Clin, Ft Worth, TX USA
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Morphol & Genet, Genet Div, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Psychobiol Dept, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dev Biol Div, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Pharmacol, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo
dc.description.sponsorshipFaculty of Biology and Medicine, University of Lausanne
dc.description.sponsorshipSwiss National Science Foundation
dc.description.sponsorshipLithuanian-Swiss Cooperation Program
dc.description.sponsorshipIDFAPESP: 2014/11572-8
dc.description.sponsorshipIDSwiss National Science Foundation 31003A_160203
dc.format.extent281-291
dc.identifierhttp://dx.doi.org/10.1002/humu.23373
dc.identifier.citationHuman Mutation. Hoboken, v. 39, n. 2, p. 281-291, 2018.
dc.identifier.doi10.1002/humu.23373
dc.identifier.issn1059-7794
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54235
dc.identifier.wosWOS:000419711500011
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofHuman Mutation
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAMMECR1en
dc.subjectbone dysplasiaen
dc.subjectgrowth delayen
dc.subjectheart alterationen
dc.subjectX-linked diseaseen
dc.titleInactivation of AMMECR1 is associated with growth, bone, and heart alterationsen
dc.typeinfo:eu-repo/semantics/article
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