Ribosomal protein S24 gene is mutated in diamond-blackfan anemia
Ribosomal protein S24 gene is mutated in diamond-blackfan anemia
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DOI：
10.1086/510020
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发表时间：
2006-12-01
影响因子：
9.8
通讯作者：
Sieff, Colin A.
中科院分区：
文献类型：
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作者：
Gazda, Hanna T.;Grabowska, Agnieszka;Sieff, Colin A.
Diamond-Blackfan贫血（DBA）是一种罕见的先天性红细胞再生障碍性贫血，其特征为贫血、骨髓成红细胞减少症和先天性异常，与核糖体蛋白（RP）S19基因（RPS 19）的杂合突变相关，约25%的先证者发生这种突变。我们报告了在另一个RP，RPS 24（由RPS 24 [10 q22-q23]编码）中发现的从头无义和剪接位点突变，与2%的RPS 19突变阴性先证者相似。这一发现强烈表明DBA是一种核糖体合成障碍，其他RP或相关基因的突变导致核糖体生物发生和/或功能破坏也可能导致DBA。
Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in similar to 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in similar to 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.