Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism
Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have...
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| Format: | Article |
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Wiley
2010-01-01
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| Series: | Advances in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2010/790632 |
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| author | Deborah Chiabrando Emanuela Tolosano |
| author_facet | Deborah Chiabrando Emanuela Tolosano |
| author_sort | Deborah Chiabrando |
| collection | DOAJ |
| description | Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have been identified in 25% of patients with DBA, with resulting impairment of 18S rRNA processing and 40S ribosomal subunit formation. Moreover, mutations in other ribosomal protein coding genes account for about 25% of other DBA cases. Recently, the analysis of mice from which the gene coding for the heme exporter Feline Leukemia Virus subgroup C Receptor (FLVCR1) is deleted suggested that this gene may be involved in the pathogenesis of DBA. FLVCR1-null mice show a phenotype resembling that of DBA patients, including erythroid failure and malformations. Interestingly, some DBA patients have disease linkage to chromosome 1q31, where FLVCR1 is mapped. Moreover, it has been reported that cells from DBA patients express alternatively spliced isoforms of FLVCR1 which encode non-functional proteins. Herein, we review the known roles of RPS19 and FLVCR1 in ribosome function and heme metabolism respectively, and discuss how the deficiency of a ribosomal protein or of a heme exporter may result in the same phenotype. |
| format | Article |
| id | doaj-art-0d646f14b4984a96a6e4b3f25c3bf716 |
| institution | Kabale University |
| issn | 1687-9104 1687-9112 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
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| series | Advances in Hematology |
| spelling | doaj-art-0d646f14b4984a96a6e4b3f25c3bf7162025-02-03T05:51:48ZengWileyAdvances in Hematology1687-91041687-91122010-01-01201010.1155/2010/790632790632Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme MetabolismDeborah Chiabrando0Emanuela Tolosano1Molecular Biotechnology Center, University of Torino, Via Nizza 52, 10126 Torino, ItalyMolecular Biotechnology Center, University of Torino, Via Nizza 52, 10126 Torino, ItalyDiamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have been identified in 25% of patients with DBA, with resulting impairment of 18S rRNA processing and 40S ribosomal subunit formation. Moreover, mutations in other ribosomal protein coding genes account for about 25% of other DBA cases. Recently, the analysis of mice from which the gene coding for the heme exporter Feline Leukemia Virus subgroup C Receptor (FLVCR1) is deleted suggested that this gene may be involved in the pathogenesis of DBA. FLVCR1-null mice show a phenotype resembling that of DBA patients, including erythroid failure and malformations. Interestingly, some DBA patients have disease linkage to chromosome 1q31, where FLVCR1 is mapped. Moreover, it has been reported that cells from DBA patients express alternatively spliced isoforms of FLVCR1 which encode non-functional proteins. Herein, we review the known roles of RPS19 and FLVCR1 in ribosome function and heme metabolism respectively, and discuss how the deficiency of a ribosomal protein or of a heme exporter may result in the same phenotype.http://dx.doi.org/10.1155/2010/790632 |
| spellingShingle | Deborah Chiabrando Emanuela Tolosano Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism Advances in Hematology |
| title | Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism |
| title_full | Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism |
| title_fullStr | Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism |
| title_full_unstemmed | Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism |
| title_short | Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism |
| title_sort | diamond blackfan anemia at the crossroad between ribosome biogenesis and heme metabolism |
| url | http://dx.doi.org/10.1155/2010/790632 |
| work_keys_str_mv | AT deborahchiabrando diamondblackfananemiaatthecrossroadbetweenribosomebiogenesisandhememetabolism AT emanuelatolosano diamondblackfananemiaatthecrossroadbetweenribosomebiogenesisandhememetabolism |