Table 1 Diseases of Ribosome Biogenesis
From: Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis
Ribosomopathy | Proteins | Function | Phenotype |
|---|---|---|---|
Diamond-Blackfan Anemia | RSP7, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29 | Processing of 18S rRNA | anemia, bone marrow failure, craniofacial and limb defects, cancer predisposition |
RPL5, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A | Processing LSSu rRNA | anemia, bone marrow failure, craniofacial and limb defects, cancer predisposition | |
5q-Syndrome | RPS14 | 18S rRNA processing | anemia, bone marrow failure, myelodysplastic syndrome, cancer predisposition |
Treacher-Collins Syndrome | TCOF1 | rDNA transcription & 18S processing | Craniofacial |
North American Indian Childhood Cirrhosis | UTP4 (formerly Cirhin) | 18S rRNA maturation | Billary cirrhosis |
Bowen-Conradi Syndrome | EMG1 | Maturation of SSU | Growth retardation, psychomotor delay, skeletal |
Isolated Congenital Asplenia | RPSA | Maturation of SSU | Spleen loss |
X-linked subtype of dyskeratosis congenita | Dyskerin | Linked to H/ACA snoRNA and TERC | Variable, reticulated hyperpigmentation of skin, nail dystrophy, leukoplakia, bone marrow defects |
Shwachman-Diamond Syndrome | SBDS | Maturation and export of LSU | Growth retardation, exocrine pancrease insufficiency, skeletal and hematologic defects, cancer predisposition |
Alopecia, neurological and endocrinopathy syndrome | RBM28 | Maturation of LSU | Growth retardation, impaired motor skills, mental retardation, hair loss, skeletal and skin abnormalities, adrenal defect. |