Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

被引：34

作者：

Cristina Estan, Maria ^{[1
,2
]}

Fernandez-Nunez, Elisa ^{[1
]}

Zaki, Maha S. ^{[3
]}

Isabel Esteban, Maria ^{[4
]}

Donkervoort, Sandra ^{[5
]}

Hawkins, Cynthia ^{[6
]}

Caparros-Martin, Jose A. ^{[1
,2
,18
,19
]}

Saade, Dimah ^{[5
]}

Hu, Ying ^{[5
]}

Bolduc, Veronique ^{[5
]}

Ru-Yui Chao, Katherine ^{[7
]}

Nevado, Julian ^{[8
]}

Lamuedra, Ana ^{[9
]}

Largo, Raquel ^{[9
]}

Herrero-Beaumont, Gabriel ^{[9
]}

Ragavendra, Javier ^{[10
]}

Hernandez-Chico, Concepcion ^{[2
,11
]}

Tizzano, Eduardo F. ^{[2
,12
,13
]}

Martinez-Glez, Victor ^{[2
,8
]}

Carvajal, Jaime J. ^{[14
]}

Zong, Ruiting ^{[15
]}

Nelson, David L. ^{[15
]}

Otaify, Ghada A. ^{[3
]}

Temtamy, Samia ^{[3
]}

Aglan, Mona ^{[3
]}

Issa, Mahmoud ^{[3
]}

Bonnemann, Carsten G. ^{[5
]}

Lapunzina, Pablo ^{[2
,8
]}

Yoon, Grace ^{[16
,17
]}

Ruiz-Perez, Victor L. ^{[1
,2
,8
]}

机构：

[1] CSIC UAM, Inst Invest Biomed Alberto Sols, Madrid 28029, Spain

[2] ISCIII, CIBER Enfermedades Raras CIBERER, Madrid 28029, Spain

[3] Natl Res Ctr, Ctr Excellence Human Genet, Dept Clin Genet, Human Genet & Genome Res Div, Cairo 12311, Egypt

[4] Hosp Univ La Paz IdiPaz UAM, Dept Anat Patol, Madrid 28046, Spain

[5] NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD 20814 USA

[6] Univ Toronto, Hosp Sick Children, Dept Paediat Lab Med, Div Pathol, Toronto, ON M5G 1X8, Canada

[7] Broad Inst MIT & Harvard, Ctr Mendelian Genom, Program Med & Populat Genet, Boston, MA 02115 USA

[8] Hosp Univ La Paz IdiPaz UAM, Inst Genet Med & Mol INGEMM, Madrid 28046, Spain

[9] UAM, Fdn Jimenez Diaz, Inst Hlth Res IIS, Bone & Joint Res Unit, Madrid 28040, Spain

[10] Univ Autonoma Madrid, Fac Med, Dept Anat Histol & Neurociencia, E-28029 Madrid, Spain

[11] Hosp Ramon & Cajal, Serv Genet, Madrid 28034, Spain

[12] Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona 08035, Spain

[13] Hosp Valle De Hebron, Rare Dis Unit, Barcelona 08035, Spain

[14] Univ Pablo de Olavide, Ctr Andaluz Biol Desarrollo CSIC UPO JA, Seville 41013, Spain

[15] Baylor Coll Med, Jan & Dan Duncan Neurol Res Inst, Dept Mol & Human Genet, 1250 Moursund St, Houston, TX 77030 USA

[16] Univ Toronto, Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, 555 Univ Ave, Toronto, ON M5G 1X8, Canada

[17] Univ Toronto, Hosp Sick Children, Dept Paediat, Div Neurol, 555 Univ Ave, Toronto, ON M5G 1X8, Canada

[18] Curtin Univ, Sch Pharm & Biomed Sci, Perth, WA 6102, Australia

[19] Curtin Univ, CHIRI, Perth, WA 6102, Australia

来源：

NATURE COMMUNICATIONS | 2019年 / 10卷 / 1期

关键词：

MENTAL-RETARDATION PROTEIN; RNA-BINDING PROTEIN; MUSCULAR-DYSTROPHY; SKELETAL-MUSCLE; READ ALIGNMENT; EXPRESSION; FMR1; GENE; ASSOCIATION; DISCOVERY;

D O I：

10.1038/s41467-019-08548-9

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.

引用

页数：19

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