Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
复制标题
DOI：
10.1126/science.1234864
复制
发表时间：
2013-05-24
期刊：
影响因子：
--
通讯作者：
Casanova JL
中科院分区：
文献类型：
--
作者：
Bolze A;Mahlaoui N;Byun M;Turner B;Trede N;Ellis SR;Abhyankar A;Itan Y;Patin E;Brebner S;Sackstein P;Puel A;Picard C;Abel L;Quintana-Murci L;Faust SN;Williams AP;Baretto R;Duddridge M;Kini U;Pollard AJ;Gaud C;Frange P;Orbach D;Emile JF;Stephan JL;Sorensen R;Plebani A;Hammarstrom L;Conley ME;Selleri L;Casanova JL
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, a frameshift duplication and five different missense - cause autosomal dominant ICA by haploinsufficiency. Population genetic studies showed that RPSA was subject to purifying selection. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development.
登录
查看更多内容
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1084/jem.20101597
发表时间：
2010-10-25
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Byun M;Abhyankar A;Lelarge V;Plancoulaine S;Palanduz A;Telhan L;Boisson B;Picard C;Dewell S;Zhao C;Jouanguy E;Feske S;Abel L;Casanova JL
通讯作者：
Casanova JL
影响因子：
9
作者：
Scheiman, J.;Jamieson, K. V.;Meruelo, D.
通讯作者：
Meruelo, D.
影响因子：
12.3
作者：
Balasubramanian S;Zheng D;Liu YJ;Fang G;Frankish A;Carriero N;Robilotto R;Cayting P;Gerstein M
通讯作者：
Gerstein M
DOI：
10.1084/jem.20110958
发表时间：
2011-08-01
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Liu L;Okada S;Kong XF;Kreins AY;Cypowyj S;Abhyankar A;Toubiana J;Itan Y;Audry M;Nitschke P;Masson C;Toth B;Flatot J;Migaud M;Chrabieh M;Kochetkov T;Bolze A;Borghesi A;Toulon A;Hiller J;Eyerich S;Eyerich K;Gulácsy V;Chernyshova L;Chernyshov V;Bondarenko A;Grimaldo RM;Blancas-Galicia L;Beas IM;Roesler J;Magdorf K;Engelhard D;Thumerelle C;Burgel PR;Hoernes M;Drexel B;Seger R;Kusuma T;Jansson AF;Sawalle-Belohradsky J;Belohradsky B;Jouanguy E;Bustamante J;Bué M;Karin N;Wildbaum G;Bodemer C;Lortholary O;Fischer A;Blanche S;Al-Muhsen S;Reichenbach J;Kobayashi M;Rosales FE;Lozano CT;Kilic SS;Oleastro M;Etzioni A;Traidl-Hoffmann C;Renner ED;Abel L;Picard C;Maródi L;Boisson-Dupuis S;Puel A;Casanova JL
通讯作者：
Casanova JL