About: Ribosomal Protein S17 Gene (RPS17) Is Mutated in Diamond-Blackfan Anemia

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia characterized as a normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow. In 40% of DBA patients, various physical anomalies are also present. Currently two genes are associated with the DBA phenotype?the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24 mutated in _1.4% of DBA patients. Here we report the identification of a mutation in yet another ribosomal protein, RPS17. The mutation affects the translation initiation start codon, changing T to G (c.2T4G), thus eliminating the natural start of RPS17 protein biosynthesis. RNA analysis revealed that the mutated allele was expressed, and the next downstream start codon located at position 1158 should give rise to a short peptide of only four amino acids (Met-Ser-Arg-Ile). The mutation arose de novo, since all healthy family members carry the wildtype alleles. Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia characterized as a normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow. In 40% of DBA patients, various physical anomalies are also present. Currently two genes are associated with the DBA phenotype?the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24 mutated in _1.4% of DBA patients. Here we report the identification of a mutation in yet another ribosomal protein, RPS17. The mutation affects the translation initiation start codon, changing T to G (c.2T4G), thus eliminating the natural start of RPS17 protein biosynthesis. RNA analysis revealed that the mutated allele was expressed, and the next downstream start codon located at position 1158 should give rise to a short peptide of only four amino acids (Met-Ser-Arg-Ile). The mutation arose de novo, since all healthy family members carry the wildtype alleles. (en)
Title	Ribosomal Protein S17 Gene (RPS17) Is Mutated in Diamond-Blackfan Anemia Ribosomal Protein S17 Gene (RPS17) Is Mutated in Diamond-Blackfan Anemia (en)
skos:prefLabel	Ribosomal Protein S17 Gene (RPS17) Is Mutated in Diamond-Blackfan Anemia Ribosomal Protein S17 Gene (RPS17) Is Mutated in Diamond-Blackfan Anemia (en)
skos:notation	RIV/61989592:15110/07:10216170!RIV12-MSM-15110___
http://linked.open...avai/riv/aktivita	S Z
http://linked.open...avai/riv/aktivity	S, Z(MZ0UHKT2005)
http://linked.open...iv/cisloPeriodika	12
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Pospíšilová, Dagmar Čmejla, Radek
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	447816
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/07:10216170
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Diamond-Blackfan anemia; translation; small ribosomal subunit; RPS17; ribosomal protein S17 (en)
http://linked.open.../riv/klicoveSlovo	RPS17 ribosomal protein S17 small ribosomal subunit translation Diamond-Blackfan anemia
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[AB28F274B4D5]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	28
http://linked.open...iv/tvurceVysledku	Pospíšilová, Dagmar Petrák, J. Čmejla, Radek Čmejlová, Jana Handrková, H.
http://linked.open...n/vavai/riv/zamer	Význam molekulárně biologických vyšetření pro objasnění patogeneze a pro diagnostiku poruch krvetvorby a využití krvetvorné buňky v léčbě onemocnění krvetvorby a jiných tkání.
issn	1059-7794
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	15110
is http://linked.open...avai/riv/vysledek of	Ribosomal Protein S17 Gene (RPS17) Is Mutated in Diamond-Blackfan Anemia

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