Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

被引：139

作者：

Bolze, Alexandre ^{[1
,2
]}

Mahlaoui, Nizar ^{[3
]}

Byun, Minji ^{[1
]}

Turner, Bridget ^{[4
]}

Trede, Nikolaus ^{[4
]}

Ellis, Steven R. ^{[5
]}

Abhyankar, Avinash ^{[1
]}

Itan, Yuval ^{[1
]}

Patin, Etienne ^{[6
]}

Brebner, Samuel ^{[1
]}

Sackstein, Paul ^{[1
]}

Puel, Anne ^{[2
,7
]}

Picard, Capucine ^{[2
,7
,8
]}

Abel, Laurent ^{[1
,2
,7
]}

Quintana-Murci, Lluis ^{[6
]}

Faust, Saul N. ^{[9
,10
,11
]}

Williams, Anthony P. ^{[10
,11
,12
]}

Baretto, Richard ^{[13
]}

Duddridge, Michael ^{[13
]}

Kini, Usha ^{[14
]}

Pollard, Andrew J. ^{[15
,16
]}

Gaud, Catherine ^{[17
]}

Frange, Pierre ^{[18
,19
]}

Orbach, Daniel ^{[20
]}

Emile, Lean-Francois ^{[21
,22
]}

Stephan, Jean-Louis ^{[23
]}

Sorensen, Ricardo ^{[24
,25
]}

Plebani, Alessandro ^{[26
,27
]}

Hammarstrom, Lennart ^{[28
]}

Conley, Mary Ellen ^{[29
]}

Selleri, Licia ^{[30
]}

Casanova, Jean-Laurent ^{[1
,2
,7
,18
]}

机构：

[1] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA

[2] Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, F-75006 Paris, France

[3] Hop Necker Enfants Malad, French Natl Reference Ctr Primary Immune Deficien, Pediat Hematol Immunol & Rheumatol Unit, F-75015 Paris, France

[4] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA

[5] Univ Louisville, Dept Biochem & Mol Biol, Louisville, KY 40202 USA

[6] Inst Pasteur, Dept Genomes & Genet, Unit Human Evolutionary Genet, CNRS,URA3012, F-75015 Paris, France

[7] INSERM, Lab Human Genet Infect Dis, U980, Necker Branch, F-75015 Paris, France

[8] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiency, F-75015 Paris, France

[9] Univ Hosp Southampton NHS Fdn Trust, NIHR Wellcome Trust Clin Res Facil, Southampton S016 6YD, Hants, England

[10] Univ Southampton, Fac Med, Southampton S016 6YD, Hants, England

[11] Univ Southampton, Inst Life Sci, Southampton S016 6YD, Hants, England

[12] Univ Hosp Southampton NHS Fdn Trust, Southampton S016 6YD, Hants, England

[13] Univ Hosp Leicester NHS Trust, Dept Immunol, Leicester LE1 5WW, Leics, England

[14] Oxford Univ Hosp NHS Trust, Dept Clin Genet, Oxford OX3 7LE, England

[15] Univ Oxford, Dept Pediat, Oxford OX3 9DU, England

[16] NIHR Oxford Biomed Res Ctr, Oxford OX3 9DU, England

[17] CHU Reunion Site Nord, Dept Clin Immunol, F-97405 St Denis, Reunion, France

[18] Hop Necker Enfants Malad, AP HP, Pediat Immunol Hematol Unit, F-75015 Paris, France

[19] Univ Paris 05, EA 3620, Sorbonne Paris Cite, F-75015 Paris, France

[20] Inst Curie, Dept Pediat, F-75005 Paris, France

[21] Univ Versailles SOY, EA 4340, F-92104 Boulogne, France

[22] Hop Ambroise Pare, AP HP, F-92104 Boulogne, France

[23] CHU Nord, Dept Pediat, F-42055 St Etienne, France

[24] Louisiana State Univ, Dept Pediat, Hlth Sci Ctr, Jeffrey Modell Diagnost Ctr Primary Immunodeficie, New Orleans, LA 70118 USA

[25] Childrens Hosp, New Orleans, LA 70118 USA

[26] Univ Brescia, Spedali Civili Brescia, Dept Pediat, I-25123 Brescia, Italy

[27] Univ Brescia, Spedali Civili Brescia, Inst Mol Med A Nocivelti, I-25123 Brescia, Italy

[28] Karolinska Univ Hosp Huddnge, Dept Lab Med, Div Clin Immunol, Karolinska Inst, SE-14186 Stockholm, Sweden

[29] Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38101 USA

[30] Cornell Univ, Dept Cell & Dev Biol, Weill Med Coll, New York, NY 10065 USA

来源：

SCIENCE | 2013年 / 340卷 / 6135期

关键词：

MUTATIONS;

D O I：

10.1126/science.1234864

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：

Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential rote for RPSA in human spleen development.

引用

页码：976 / 978

页数：3

共 22 条

[11] Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients [J].

Gazda, Hanna T. ;

Sheen, Mee Rie ;

Vlachos, Adrianna ;

Choesmel, Valerie ;

O'Donohue, Marie-Francoise ;

Schneider, Hal ;

Darras, Natasha ;

Hasman, Catherine ;

Sieff, Colin A. ;

Newburger, Peter E. ;

Ball, Sarah E. ;

Niewiadomska, Edyta ;

Matysiak, Michal ;

Zaucha, Jan M. ;

Glader, Bertil ;

Niemeyer, Charlotte ;

Meerpohl, Joerg J. ;

Atsidaftos, Eva ;

Lipton, Jeffrey M. ;

Gleizes, Pierre-Emmanuel ;

Beggs, Alan H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (06) :769-780

[12] Persistent thrombocytosis in elderly patients with rare hyposplenias that mimic essential thrombocythemia [J].

Imashuku, Shinsaku ;

Kudo, Naoko ;

Kubo, Kagekatsu ;

Takahashi, Naoto ;

Tohyama, Kaoru .

INTERNATIONAL JOURNAL OF HEMATOLOGY, 2012, 95 (06) :702-705

[13] Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module [J].

Koss, Matthew ;

Bolze, Alexandre ;

Brendolan, Andrea ;

Saggese, Matilde ;

Capellini, Terence D. ;

Bojilova, Ekaterina ;

Boisson, Bertrand ;

Prall, Owen W. J. ;

Elliott, David A. ;

Solloway, Mark ;

Lenti, Elisa ;

Hidaka, Chisa ;

Chang, Ching-Pin ;

Mahlaoui, Nizar ;

Harvey, Richard P. ;

Casanova, Jean-Laurent ;

Selleri, Licia .

DEVELOPMENTAL CELL, 2012, 22 (05) :913-926

[14] Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders [J].

Lipton, Jeffrey M. ;

Ellis, Steven R. .

CURRENT OPINION IN PEDIATRICS, 2010, 22 (01) :12-19

[15] Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis [J].

Liu, Luyan ;

Okada, Satoshi ;

Kong, Xiao-Fei ;

Kreins, Alexandra Y. ;

Cypowyj, Sophie ;

Abhyankar, Avinash ;

Toubiana, Julie ;

Itan, Yuval ;

Audry, Magali ;

Nitschke, Patrick ;

Masson, Cecile ;

Toth, Beata ;

Flatot, Jerome ;

Migaud, Melanie ;

Chrabieh, Maya ;

Kochetkov, Tatiana ;

Bolze, Alexandre ;

Borghesi, Alessandro ;

Toulon, Antoine ;

Hiller, Julia ;

Eyerich, Stefanie ;

Eyerich, Kilian ;

Gulacsy, Vera ;

Chernyshova, Ludmyla ;

Chernyshov, Viktor ;

Bondarenko, Anastasia ;

Cortes Grimaldo, Rosa Maria ;

Blancas-Galicia, Lizbeth ;

Madrigal Beas, Ileana Maria ;

Roesler, Joachim ;

Magdorf, Klaus ;

Engelhard, Dan ;

Thumerelle, Caroline ;

Burgel, Pierre-Regis ;

Hoernes, Miriam ;

Drexel, Barbara ;

Seger, Reinhard ;

Kusuma, Theresia ;

Jansson, Annette F. ;

Sawalle-Belohradsky, Julie ;

Belohradsky, Bernd ;

Jouanguy, Emmanuelle ;

Bustamante, Jacinta ;

Bue, Melanie ;

Karin, Nathan ;

Wildbaum, Gizi ;

Bodemer, Christine ;

Lortholary, Olivier ;

Fischer, Alain ;

Blanche, Stephane .

JOURNAL OF EXPERIMENTAL MEDICINE, 2011, 208 (08) :1635-1648

[16]

Mahlaoui N., 2011, J PEDIAT, V142, pe1

[17] CONGENITAL ABSENCE OF THE SPLEEN IN AN ADULT - REPORT OF A CASE ASSOCIATED WITH RECURRENT WATERHOUSE-FRIDERICHSEN SYNDROME [J].

MYERSON, RM ;

KOELLE, WA .

NEW ENGLAND JOURNAL OF MEDICINE, 1956, 254 (24) :1131-1132

[18] Exome sequencing identifies the cause of a mendelian disorder [J].

Ng, Sarah B. ;

Buckingham, Kati J. ;

Lee, Choli ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Dent, Karin M. ;

Huff, Chad D. ;

Shannon, Paul T. ;

Jabs, Ethylin Wang ;

Nickerson, Deborah A. ;

Shendure, Jay ;

Bamshad, Michael J. .

NATURE GENETICS, 2010, 42 (01) :30-U41

[19] Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits [J].

O'Donohue, Marie-Francoise ;

Choesmel, Valerie ;

Faubladier, Marlene ;

Fichant, Gwennaele ;

Gleizes, Pierre-Emmanuel .

JOURNAL OF CELL BIOLOGY, 2010, 190 (05) :853-866

[20] Extraribosomal functions associated with the C terminus of the 37/67 kDa laminin receptor are required for maintaining cell viability [J].

Scheiman, J. ;

Jamieson, K. V. ;

Ziello, J. ;

Tseng, J-C ;

Meruelo, D. .

CELL DEATH & DISEASE, 2010, 1 :e42-e42

← 1 2 3 →