RPS14

5q minus syndrome

The RPS14 gene is involved in a condition called 5q minus (5q-) syndrome. This condition is a type of bone marrow disorder called myelodysplastic syndrome (MDS), in which immature blood cells fail to develop normally. Individuals with 5q- syndrome often have a shortage of red blood cells (anemia) and abnormalities in blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Affected individuals also have an increased risk of developing a fast-growing blood cancer known as acute myeloid leukemia (AML).

5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. This deletion occurs in immature blood cells during a person's lifetime and affects one copy of chromosome 5 in each cell. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). This region of DNA contains 40 genes, including RPS14. Loss of one copy of the RPS14 gene reduces the amount of RPS14 protein that is made. Studies indicate that a shortage of functioning ribosomal proteins increases the self-destruction of blood-forming cells in the bone marrow, resulting in anemia. Research suggests that the other features of the condition are associated with other genes in the deleted segment of DNA.