Accès gratuit
Numéro
Biologie Aujourd'hui
Volume 208, Numéro 4, 2014
Page(s) 289 - 298
Section Prix de thèse 2014 de la Société de Biologie
DOI https://doi.org/10.1051/jbio/2015001
Publié en ligne 3 avril 2015
  • Abecasis G.R., Auton A., Brooks L.D., DePristo M.A., Durbin R.M., Handsaker R.E., Kang H.M., Marth G.T., McVean G.A., An integrated map of genetic variation from 1,092 human genomes, 1000 Genomes Project Consortium. Nature, 2012, 491, 56–65. [CrossRef] [PubMed] [Google Scholar]
  • Affolter M., Schier A., Gehring W.J., Homeodomain proteins and the regulation of gene expression. Curr Opin Cell Biol, 1990, 2, 485–495. [CrossRef] [PubMed] [Google Scholar]
  • Alcais A., Quintana-Murci L., Thaler D.S., Schurr E., Abel L., Casanova J.L., Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann NY Acad Sci, 2010, 1214, 18–33. [CrossRef] [Google Scholar]
  • Almoznino-Sarafian D., Dotan E., Sandbank J., Gorelik O., Chachashvily S., Shteinshnaider M., Cohen N., Unusual manifestations of myelofibrosis in a patient with congenital asplenia. Acta Haematol, 2007, 118, 226–230. [CrossRef] [PubMed] [Google Scholar]
  • Anger A.M., Armache J.P., Berninghausen O., Habeck M., Subklewe M., Wilson D.N., Beckmann R., Structures of the human and Drosophila 80S ribosome. Nature, 2013, 497, 80–85. [CrossRef] [PubMed] [Google Scholar]
  • Armache J.P., Jarasch A., Anger A.M., Villa E., Becker T., Bhushan S., Jossinet F., Habeck M., Dindar G., Franckenberg S., Marquez V., Mielke T., Thomm M., Berninghausen O., Beatrix B., Soding J., Westhof E., Wilson D.N., Beckmann R., Localization of eukaryote-specific ribosomal proteins in a 5.5-? cryo-EM map of the 80S eukaryotic ribosome. Proc Natl Acad Sci USA, 2010, 107, 19754–19759. [CrossRef] [Google Scholar]
  • Auth D., Brawerman G., A 33-kDa polypeptide with homology to the laminin receptor: component of translation machinery. Proc Natl Acad Sci USA, 1992, 89, 4368–4372. [CrossRef] [Google Scholar]
  • Barak H., Huh S.H., Chen S., Jeanpierre C., Martinovic J., Parisot M., Bole-Feysot C., Nitschke P., Salomon R., Antignac C., Ornitz D.M., Kopan R., FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell, 2012, 22, 1191–1207. [CrossRef] [PubMed] [Google Scholar]
  • Belkadi A., Bolze A., Itan Y., Vincent Q.B., Antipenko A., Boisson B., Casanova J.L., Abel L., Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. BioRxiv, 2014 DOI: http://dx.doi.org/10.1101/010363. [Google Scholar]
  • Bolze A., Mahlaoui N., Byun M., Turner B., Trede N.S., Ellis S.R., Abhyankar A., Itan Y., Brebner S., Sackstein P., Puel A., Picard C., Abel L., Faust S.N., Williams A.P., Baretto R., Duddridge M., Kini U., Pollard A.J., Gaud C., Frange P., Orbach D., Emile J.F., Stephan J.L., Sorensen R., Plebani A., Hammarstrom L., Conley M.E., Selleri L., Casanova J.L., Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science, 2013, 340, 976–978. [CrossRef] [PubMed] [Google Scholar]
  • Brendolan A., Rosado M.M., Carsetti R., Selleri L., Dear T.N., Development and function of the mammalian spleen. Bioessays, 2007, 29, 166–177. [CrossRef] [PubMed] [Google Scholar]
  • Bridges C.B., Morgan T.H., Minute. The third-chromosome group of mutant characters of Drosophila melanogaster, 1923, Carnegie Institution Washington publication no. 327, Baltimore, pp. 206–212. [Google Scholar]
  • Brooks S.S., Wall A.L., Golzio C., Reid D.W., Kondyles A., Willer J.R., Botti C., Nicchitta C.V., Katsanis N., Davis E.E., A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics, 2014, 198, 723–733. [CrossRef] [PubMed] [Google Scholar]
  • Demaniova M., Formosa T.G., Ellis S.R., Yeast proteins related to the p40/laminin receptor precursor are essential components of the 40S ribosomal subunit. J Biol Chem, 1996, 271, 11383–11391. [CrossRef] [PubMed] [Google Scholar]
  • DiGiacomo V., Meruelo D., Looking into laminin receptor: critical discussion regarding the non-integrin 37/67-kDa laminin receptor/RPSA protein. Biol Rev Camb Philos Soc, 2015 Jan 28. [Google Scholar]
  • Draptchinskaia N., Gustavsson P., Andersson B., Pettersson M., Willig T.N., Dianzani I., Ball S., Tchernia G., Klar J., Matsson H., Tentler D., Mohandas N., Carlsson B., Dahl N., The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet, 1999, 21, 169–175. [CrossRef] [PubMed] [Google Scholar]
  • Farrar J.E., Vlachos A., Atsidaftos E., Carlson-Donohoe H., Markello T.C., Arceci R.J., Ellis S.R., Lipton J.M., Bodine D.M., Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood, 2011, 118, 6943−6951. [CrossRef] [PubMed] [Google Scholar]
  • Ford C.L., Randal-Whitis L., Ellis S.R., Yeast proteins related to the p40/laminin receptor precursor are required for 20S ribosomal RNA processing and the maturation of 40S ribosomal subunits. Cancer Res, 1999, 59, 704–710. [PubMed] [Google Scholar]
  • Gazda H.T., Sheen M.R., Vlachos A., Choesmel V., O’Donohue M.F., Schneider H., Darras N., Hasman C., Sieff C.A., Newburger P.E., Ball S.E., Niewiadomska E., Matysiak M., Zaucha J.M., Glader B., Niemeyer C., Meerpohl J.J., Atsidaftos E., Lipton J.M., Gleizes P.E., Beggs A.H., Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet, 2008, 83, 769–780. [CrossRef] [PubMed] [Google Scholar]
  • Gazda H.T., Preti M., Sheen M.R., O’Donohue M.F., Vlachos A., Davies S.M., Kattamis A., Doherty L., Landowski M., Buros C., Ghazvinian R., Sieff C.A., Newburger P.E., Niewiadomska E., Matysiak M., Glader B., Atsidaftos E., Lipton J.M., Gleizes P.E., Beggs A.H., Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia. Hum Mutat, 2012, 33, 1037–1044. [CrossRef] [PubMed] [Google Scholar]
  • Gehring W.J., Homeo boxes in the study of development. Science, 1987, 236, 1245–1252. [CrossRef] [PubMed] [Google Scholar]
  • Gilbert L.A., Horlbeck M.A., Adamson B., Villalta J.E., Chen Y., Whitehead E.H., Guimaraes C., Panning B., Ploegh H.L., Bassik M.C., Qi L.S., Kampmann M., Weissman J.S., Genome-scale CRISPR-mediated control of gene repression and activation. Cell, 2014, 159, 647–661. [CrossRef] [PubMed] [Google Scholar]
  • Gripp K.W., Curry C., Olney A.H., Sandoval C., Fisher J., Chong J.X., UW Center for Mendelian Genomics, Pilchman L., Sahraoui R., Stabley D.L., Sol-Church K., Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet, 2014, 164, 2240−2249. [CrossRef] [Google Scholar]
  • Gupta V., Warner J.R., Ribosome-omics of the human ribosome. RNA, 2014, 20, 1004–1013. [CrossRef] [PubMed] [Google Scholar]
  • Herman M., Ciancanelli M., Ou Y.H., Lorenzo L., Klaudel-Dreszler M., Pauwels E., Sancho-Shimizu V., Perez de Diego R., Abhyankar A., Israelsson E., Guo Y., Cardon A., Rozenberg F., Lebon P., Tardieu M., Heropolitanska-Pliszka E., Chaussabel D., White M.A., Abel L., Zhang S.Y., Casanova J.L., Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med, 2012, 209, 1567–1582. [CrossRef] [PubMed] [Google Scholar]
  • Horos R., Ijspeert H., Pospisilova D., Sendtner R., Andrieu-Soler C., Taskesen E., Nieradka A., Cmejla R., Sendtner M., Touw I.P., von Lindern M., Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts. Blood, 2012, 119, 262−272. [CrossRef] [PubMed] [Google Scholar]
  • Imashuku S., Kudo N., Kubo K., Takahashi N., Tohyama K., Persistent thrombocytosis in elderly patients with rare hyposplenias that mimic essential thrombocythemia. Int J Hematol, 2012, 95, 702–705. [CrossRef] [PubMed] [Google Scholar]
  • Ingolia N.T., Ghaemmaghami S., Newman J.R., Weissman J.S., Genome-wide anlysis in vivo of translation with nucleotide resolution using ribosome profiling. Science, 2009, 324, 218–223. [CrossRef] [PubMed] [Google Scholar]
  • Ingolia N.T., Brar G.A., Rouskin S., McGeachy A.M., Weissman J.S., The ribosome profiling strategy for monitoring translation in vivo by deep sequencing of ribosome-protected mRNA fragments. Nat Protoc, 2012, 7, 1534-1550. [CrossRef] [PubMed] [Google Scholar]
  • Jenner L., Melnikov S., Garreau de Loubresse N., Ben-Shem A., Iskakova M., Urzhumtsev A., Meskauskas A., Dinman J., Yusupova G., Yusupov M., Crystal structure of the 80S yeast ribosome. Curr Opin Struc Biol, 2012, 22, 759–767. [CrossRef] [Google Scholar]
  • Kitzman J.O., Snyder M.W., Ventura M., Lewis A.P., Qiu R., Simmons L.E., Gammill H.S., Rubens C.E., Santillan D.A., Murray J.C., Tabor H.K., Bamshad M.J., Eichler E.E., Shendure J., Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med, 2012, 4, 137ra76. [CrossRef] [Google Scholar]
  • Kondrashov N., Pusic A., Stumpf C.R., Shimizu K., Hsieh A.C., Xue S., Ishijima J., Shiroishi T., Barna M., Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning. Cell, 2011, 145, 383–397. [CrossRef] [PubMed] [Google Scholar]
  • Kongsuwan K., Yu Q., Vincent A., Frisardi M.C., Rosbash M., Lengyel J.A., Merriam J., A Drosophila Minute gene encodes a ribosomal protein. Nature, 1985, 317, 555–558. [CrossRef] [PubMed] [Google Scholar]
  • Koss M., Bolze A., Brendolan A., Saggese M., Capellini T.D., Bojilova E., Boisson B., Prall O.W., Elliott D.A., Solloway M., Lenti E., Hidaka C., Chang C.P., Mahlaoui N., Harvey R.P., Casanova J.L., Selleri L., Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. Dev Cell, 2012, 22, 913–926. [CrossRef] [PubMed] [Google Scholar]
  • Landry D.M., Hertz M.I., Thompson S.R., RPS25 is essential for translation initiation by the Dicistroviridae and hepatitis C viral IRESs. Genes Dev, 2009, 23, 2753−2764. [CrossRef] [PubMed] [Google Scholar]
  • Lango Allen H., Flanagan S.E., Shaw-Smith C., De Franco E., Akerman I., Caswell R., Ferrer J., Hattersley A.T., Ellard S., GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 2011, 44, 20–22. [CrossRef] [PubMed] [Google Scholar]
  • Lee J.H., Huynh M., Silhavy J.L., Kim S., Dixon-Salazar T., Heiberg A., Scott E., Bafna V., Hill K.J., Collazo A., Funari V., Russ C., Gabriel S.B., Mathern G.W., Gleeson J.G., De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet, 2012, 44, 941–945. [CrossRef] [PubMed] [Google Scholar]
  • Lee A.S., Burdeinick-Kerr R., Whelan S.P., A ribosome-specialized translation initiation pathway is required for cap-dependent translation of vesicular stomatitis virus mRNAs. Proc Natl Acad Sci USA, 2013, 110, 324−329. [CrossRef] [Google Scholar]
  • Lipton J.M., Ellis S.R., Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders. Curr Opin Pediatr, 2010, 22, 12–19. [CrossRef] [PubMed] [Google Scholar]
  • Ludwig L.S., Gazda H.T., Eng J.C., Eichhorn S.W., Thiru P., Ghazvinian R., George T.I., Gotlib J.R., Beggs A.H., Sieff C.A., Lodish H.F., Lander E.S., Sankaran V.G., Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med, 2014, 20, 748–753. [CrossRef] [PubMed] [Google Scholar]
  • Mahlaoui N., Minard-Colin V., Picard C., Bolze A., Ku C.L., Tournilhac O., Gilbert-Dussardier B., Pautard B., Durand P., Devictor D., Lachassinne E., Guillois B., Morin M., Gouraud F., Valensi F., Fischer A., Puel A., Abel L., Bonnet D., Casanova J.L., Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr, 2011, 158, 142−148. [CrossRef] [PubMed] [Google Scholar]
  • Marygold S.J., Coelho C.M., Leevers S.J., Genetic analysis of RpL38 and RpL5, two minute genes located in the centric heterochromatin of chromosome 2 of Drosophila melanogaster. Genetics, 2005, 169, 683–695. [CrossRef] [PubMed] [Google Scholar]
  • Melnick M.B., Noll E., Perrimon N., The Drosophila stubarista phenotype is associated with a dosage effect of the putative ribosome-associated protein D-p40 on spineless. Genetics, 1993, 135, 553–564. [PubMed] [Google Scholar]
  • Myerson R.M., Koelle W.A., Congenital absence of the spleen in an adult: report of a case associated with recurrent Waterhouse-Friderichsen syndrome. N Engl J Med, 1956, 254, 1131−1132. [CrossRef] [PubMed] [Google Scholar]
  • Narla A., Ebert B.L., Ribosomopathies: human disorders of ribosome dysfunction. Blood, 2010, 115, 3196−3205. [CrossRef] [PubMed] [Google Scholar]
  • Ng S.B., Buckingham K.J., Lee C., Bigham A.W., Tabor H.K., Dent K.M., Huff C.D., Shannon P.T., Jabs E.W., Nickerson D.A., Shendure J., Bamshad M.J., Exome sequencing identifies the cause of a mendelian disorder. Nat Genet, 2010, 42, 30–35. [CrossRef] [PubMed] [Google Scholar]
  • O’Donohue M.F., Choesmel V., Faubladier M., Fichant G., Gleizes P.E., Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. J Cell Biol, 2010, 190, 853–866. [CrossRef] [PubMed] [Google Scholar]
  • Orkin S.H., Zon L.I., Hematopoiesis: an evolving paradigm for stem cell biology. Cell, 2008, 132, 631–644. [CrossRef] [PubMed] [Google Scholar]
  • Pinon V., Etchells J.P., Rossignol P., Collier S.A., Arroyo J.M., Martienssen R.A., Byrne M.E., Three PIGGYBACK genes that specifically influence leaf patterning encode ribosomal proteins. Development, 2008, 135, 1315–1324. [CrossRef] [PubMed] [Google Scholar]
  • Sankaran V.G., Ghazvinian R., Do R., Thiru P., Vergilio J.A., Beggs A.H., Sieff C.A., Orkin S.H., Nathan D.G., Lander E.S., Gazda H.T., Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest, 2012, 122, 2439–2443. [CrossRef] [PubMed] [Google Scholar]
  • Shachor-Meyouhas Y., Sprecher H., Kassis I., Isolated congenital asplenia – a rare cause of severe pneumococcal sepsis. Harefuah, 2010, 149, 486–489. [PubMed] [Google Scholar]
  • Shalem O., Sanjana N.E., Hartenian E., Shi X., Scott D.A., Mikkelsen T.S., Heckl D., Ebert B.L., Root D.E., Doench J.G., Zhang F., Genome-scale CRISPR-Cas9 knockout screening in human cells. Science, 2014, 343, 84–87. [CrossRef] [PubMed] [Google Scholar]
  • Swirski F.K., Nahrendorf M., Etzrodt M., Wildgruber M., Cortez-Retamozo V., Panizzi P., Figueiredo J.L., Kohler R.H., Chudnovskiy A., Waterman P., Aikawa E., Mempel T.R., Libby P., Weissleder R., Pittet M.J., Identification of splenic reservoir monocytes and their deployment to inflammatory sites. Science, 2009, 325, 612–616. [CrossRef] [PubMed] [Google Scholar]
  • Torok I., Herrman-Horle D., Kiss I., Tick G., Speer G., Schmitt R., Mechler B.M., Down-regulation of Rps21, a putative translation initiation factor interacting with p40, produces viable minute imagos and larval lethality with overgrown hematopoietic organs and imaginal discs. Mol Cell Biol, 1999, 19, 2308–2321. [PubMed] [Google Scholar]
  • Uchida Y., Matsubara K., Wada T., Oishi K., Morio T., Takada H., Iwata A., Yura K., Kamimura K., Nigami H., Fukaya T., Recurrent bacterial meningitis by three different pathogens in an isolated asplenic child. J Infect Chemother, 2012, 18, 576–580. [CrossRef] [PubMed] [Google Scholar]
  • Venticinque L., Meruelo D., Comprehensive proteomic analysis of nonintegrin laminin receptor interacting proteins. J Proteome Res, 2012, 11, 4863–4872. [CrossRef] [PubMed] [Google Scholar]
  • Wang T., Wei J.J., Sabatini D.M., Lander E.S., Genetic screens in human cells using the CRISPR-Cas9 system. Science, 2014, 343, 80–84. [CrossRef] [PubMed] [Google Scholar]
  • Willig T.N., Draptchinskaia N., Dianzani I., Ball S., Niemeyer C., Ramenghi U., Orfali K., Gustavsson P., Garelli E., Brusco A., Tiemann C., Perignon J.L., Bouchier C., Cicchiello L., Dahl N., Mohandas N., Tchernia G., Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: wide variations in phenotypic expression. Blood, 1999, 94, 4294–4306. [PubMed] [Google Scholar]

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