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    RPL5 Gene

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    Submitted by: Karina Chen
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    ribosomal protein L5

    1. Normal Function

    The RPL5 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

    Each ribosome is made up of two parts (subunits) called the large and small subunits. The protein produced from the RPL5 gene is among those found in the large subunit.

    The specific functions of the RPL5 protein and the other ribosomal proteins within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).

    Research suggests that the protein produced from the RPL5 gene also normally has tumor suppressor function, which means that it helps keep cells from growing and dividing too rapidly or in an uncontrolled way.

    2. Health Conditions Related to Genetic Changes

    2.1. Diamond-Blackfan anemia

    More than 70 RPL5 gene mutations have been identified in individuals with Diamond-Blackfan anemia. This disorder primarily affects the bone marrow, which produces new blood cells. People with this condition often also have physical abnormalities affecting various parts of the body.

    The RPL5 gene mutations that cause Diamond-Blackfan anemia are either inherited or occur early in development before birth, and occur in every cell in the body. The mutations are believed to cause problems with ribosomal function. Studies indicate that a shortage of functioning ribosomes may increase apoptosis of blood-forming cells in the bone marrow, resulting in a low number of red blood cells (anemia). Abnormal regulation of cell division or inappropriate triggering of apoptosis may contribute to the other health problems and unusual physical features that affect some people with Diamond-Blackfan anemia.

    2.2. Cancers

    Mutations and deletions affecting the RPL5 gene have been identified in cancerous tumors of several types, including breast cancer, a type of brain tumor called glioblastoma, and a skin cancer called melanoma. These genetic changes are somatic, which means that they are not inherited and occur only in the cancer cells. Mutations or deletions in the RPL5 gene that interfere with the RPL5 protein's tumor suppressor function can result in the uncontrolled cell growth and division that leads to cancer.

    3. Other Names for This Gene

    • 60S ribosomal protein L5

    • DBA6

    • L5

    • MGC117339

    • MSTP030

    • PPP1R135

    • RL5_HUMAN

    • uL18

    The entry is from https://medlineplus.gov/genetics/gene/rpl5

    References

    1. Ball S. Diamond Blackfan anemia. Hematology Am Soc Hematol Educ Program.2011;2011:487-91. doi: 10.1182/asheducation-2011.1.487. Review.
    2. Boultwood J, Pellagatti A, Wainscoat JS. Haploinsufficiency of ribosomalproteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q-syndrome. Adv Biol Regul. 2012 Jan;52(1):196-203. Review.
    3. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [updated 2019 Mar7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK7047/
    4. Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J,Cerna Z, Jabali Y, Pospisilova D. Identification of mutations in the ribosomalprotein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat. 2009 Mar;30(3):321-7. doi:10.1002/humu.20874.
    5. Danilova N, Gazda HT. Ribosomopathies: how a common root can cause a tree ofpathologies. Dis Model Mech. 2015 Sep;8(9):1013-26. doi: 10.1242/dmm.020529.Review.
    6. Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, KossivaL, Kostaridou S, Kattamis A. Clinical phenotype and genetic analysis of RPS19,RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. PediatrBlood Cancer. 2014 Dec;61(12):2249-55. doi: 10.1002/pbc.25183.
    7. Ellis SR, Gleizes PE. Diamond Blackfan anemia: ribosomal proteins going rogue.Semin Hematol. 2011 Apr;48(2):89-96. doi: 10.1053/j.seminhematol.2011.02.005.Review.
    8. Ellis SR. Nucleolar stress in Diamond Blackfan anemia pathophysiology. BiochimBiophys Acta. 2014 Jun;1842(6):765-8. doi: 10.1016/j.bbadis.2013.12.013.
    9. Fancello L, Kampen KR, Hofman IJ, Verbeeck J, De Keersmaecker K. The ribosomalprotein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancertypes. Oncotarget. 2017 Feb 28;8(9):14462-14478. doi: 10.18632/oncotarget.14895.
    10. Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, DarrasN, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, BeggsAH. Ribosomal protein L5 and L11 mutations are associated with cleft palate andabnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.
    11. Mills EW, Green R. Ribosomopathies: There's strength in numbers. Science. 2017Nov 3;358(6363). pii: eaan2755. doi: 10.1126/science.aan2755. Review.
    12. Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U.Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients withRPL5 and RPL11 mutations. Haematologica. 2010 Feb;95(2):206-13. doi:10.3324/haematol.2009.011783.
    13. Vlachos A, Blanc L, Lipton JM. Diamond Blackfan anemia: a model for thetranslational approach to understanding human disease. Expert Rev Hematol. 2014Jun;7(3):359-72. doi: 10.1586/17474086.2014.897923.
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