The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia; Peter Gustavsson; Björn Andersson; Monica Pettersson; Thiébaut Noël Willig; Irma Dianzani; Sarah Ball; Gil Tchernia; Joakim Klar; Hans Matsson; Dimitri Tentler; Narla Mohandas; Birgit Carlsson; Niklas Dahl

doi:10.1038/5951

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson, Monica Pettersson, Thiébaut Noël Willig, Irma Dianzani, Sarah Ball, Gil Tchernia, Joakim Klar, Hans Matsson, Dimitri Tentler, Narla Mohandas, Birgit Carlsson, Niklas Dahl

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including non-sense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

Lingua originale	Inglese
pagine (da-a)	169-175
Numero di pagine	7
Rivista	Nature Genetics
Volume	21
Numero di pubblicazione	2
DOI	https://doi.org/10.1038/5951
Stato di pubblicazione	Pubblicato - feb 1999
Pubblicato esternamente	Sì

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title = "The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia",

abstract = "Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including non-sense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.",

author = "Natalia Draptchinskaia and Peter Gustavsson and Bj{\"o}rn Andersson and Monica Pettersson and Willig, {Thi{\'e}baut No{\"e}l} and Irma Dianzani and Sarah Ball and Gil Tchernia and Joakim Klar and Hans Matsson and Dimitri Tentler and Narla Mohandas and Birgit Carlsson and Niklas Dahl",

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doi = "10.1038/5951",

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T1 - The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

AU - Draptchinskaia, Natalia

AU - Gustavsson, Peter

AU - Andersson, Björn

AU - Pettersson, Monica

AU - Willig, Thiébaut Noël

AU - Dianzani, Irma

AU - Ball, Sarah

AU - Tchernia, Gil

AU - Klar, Joakim

AU - Matsson, Hans

AU - Tentler, Dimitri

AU - Mohandas, Narla

AU - Carlsson, Birgit

AU - Dahl, Niklas

PY - 1999/2

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N2 - Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including non-sense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

AB - Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including non-sense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Abstract

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