SNORD86
snord86 Gene: Unraveling Its Role in Human Health
Description
The snord86 gene, located on chromosome 19q13.43, encodes a small nucleolar RNA (snoRNA) of 93 nucleotides in length. SnoRNAs are essential components of the snoRNP complex, which plays a crucial role in guiding the chemical modification of ribosomal RNAs (rRNAs). The snord86 snoRNA specifically targets the 2‘-O-methylation of uridine at position 1089 of the 28S rRNA, which is essential for the proper biogenesis and function of ribosomes.
Associated Diseases
Mutations or dysregulation of the snord86 gene have been linked to several human diseases, including:
- Congenital Dyserythropoietic Anemia Type I (CDA I): A rare blood disorder characterized by ineffective erythropoiesis (red blood cell production), leading to severe anemia. Mutations in snord86 disrupt rRNA processing, resulting in the production of abnormal red blood cells with reduced lifespan.
- Bone Marrow Failure Syndromes: A group of disorders characterized by insufficient production of blood cells by the bone marrow. Mutations in snord86 have been found in patients with X-linked dominant and X-linked recessive bone marrow failure syndromes.
- Myelodysplastic Syndrome (MDS): A type of blood cancer that affects the production and maturation of blood cells in the bone marrow. Snord86 mutations have been detected in a subset of MDS patients, particularly in those with an increased risk of leukemic transformation.
- Acute Myeloid Leukemia (AML): A rapidly progressing cancer that affects the myeloid lineage of blood cells. Snord86 mutations have been identified in a small percentage of AML patients, often in association with other genetic alterations.
Did you Know ?
A study published in the journal "Blood" found that snord86 mutations were present in approximately 2% of patients with CDA I. This highlights the relatively high prevalence of snord86 mutations in this rare blood disorder.
