1. Please check and comment entries here.
Table of Contents

    Topic review

    MYCN Gene

    View times: 14
    Submitted by:
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    MYCN proto-oncogene, bHLH transcription factor

    1. Introduction

    The MYCN gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during development before birth. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, lungs, nervous system, and digestive system. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA and controlling the first step of protein production (transcription). On the basis of this action, this protein is called a transcription factor.The MYCN gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. The MYCN gene is a member of the Myc family of oncogenes. These genes play important roles in regulating cell growth and division (proliferation) and the self-destruction of cells (apoptosis).

    2. Health Conditions Related to Genetic Changes

    2.1. Feingold syndrome

    At least 36 mutations involving the MYCN gene have been found to cause Feingold syndrome type 1. This developmental disorder is characterized by abnormalities of the fingers and toes, particularly shortening of the second and fifth fingers (brachymesophalangy). Other common features include a blockage in part of the digestive system (gastrointestinal atresia), an unusually small head size (microcephaly) and learning disabilities. Most of these mutations lead to a premature stop signal in the instructions for making the protein. In some cases of Feingold syndrome type 1, the entire MYCN gene is deleted. These genetic changes prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during development. It is unclear how a reduced amount of the MYCN protein causes the varied features of Feingold syndrome type 1.

    2.2. Neuroblastoma

    Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Somatic mutations sometimes occur when DNA makes a copy of itself (replicates) in preparation for cell division. Errors in the replication process can result in one or more extra copies of a gene within a cell. The presence of extra copies of certain genes, known as gene amplification, can underlie the formation and growth of tumor cells. For example, amplification of the MYCN gene is found in about 25 percent of neuroblastomas. Neuroblastoma is a type of cancerous tumor that arises in developing nerve cells. The number of copies of the MYCN gene varies widely among these tumors but is typically between 50 and 100. Amplification of the MYCN gene is associated with a severe form of neuroblastoma. It is unknown how amplification of this gene contributes to the aggressiveness of neuroblastoma.

    3. Other Names for This Gene

    • bHLHe37
    • MYCN_HUMAN
    • MYCNOT
    • N-myc
    • N-myc proto-oncogene protein
    • neuroblastoma MYC oncogene
    • neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene
    • NMYC
    • oncogene NMYC
    • pp65/67
    • v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
    • v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
    • v-myc myelocytomatosis viral related oncogene, neuroblastoma derived
    • v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)

    This entry is adapted from https://medlineplus.gov/genetics/gene/mycn

    References

    1. Albertson DG. Gene amplification in cancer. Trends Genet. 2006Aug;22(8):447-55.
    2. Ewens KG, Bhatti TR, Moran KA, Richards-Yutz J, Shields CL, Eagle RC, Ganguly A. Phosphorylation of pRb: mechanism for RB pathway inactivation inMYCN-amplified retinoblastoma. Cancer Med. 2017 Mar;6(3):619-630. doi:10.1002/cam4.1010.
    3. Jacobs JF, van Bokhoven H, van Leeuwen FN, Hulsbergen-van de Kaa CA, de Vries IJ, Adema GJ, Hoogerbrugge PM, de Brouwer AP. Regulation of MYCN expression inhuman neuroblastoma cells. BMC Cancer. 2009 Jul 18;9:239. doi:10.1186/1471-2407-9-239.
    4. Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotypecorrelations in MYCN-related Feingold syndrome. Hum Mutat. 2008Sep;29(9):1125-32. doi: 10.1002/humu.20750.
    5. Marcelis CLM, de Brouwer APM. Feingold Syndrome 1. 2009 Jun 30 [updated 2019Apr 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK7050/
    6. Mirzamohammadi F, Kozlova A, Papaioannou G, Paltrinieri E, Ayturk UM,Kobayashi T. Distinct molecular pathways mediate Mycn and Myc-regulated miR-17-92microRNA action in Feingold syndrome mouse models. Nat Commun. 2018 Apr10;9(1):1352. doi: 10.1038/s41467-018-03788-7.
    7. Schwab M, Alitalo K, Klempnauer KH, Varmus HE, Bishop JM, Gilbert F, BrodeurG, Goldstein M, Trent J. Amplified DNA with limited homology to myc cellularoncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature. 1983 Sep 15-21;305(5931):245-8.
    8. Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL. Genetics and Molecular Diagnostics in Retinoblastoma--An Update. Asia Pac J Ophthalmol (Phila). 2017Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. Review.
    9. Tang XX, Zhao H, Kung B, Kim DY, Hicks SL, Cohn SL, Cheung NK, Seeger RC,Evans AE, Ikegaki N. The MYCN enigma: significance of MYCN expression inneuroblastoma. Cancer Res. 2006 Mar 1;66(5):2826-33.
    10. van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van BeusekomE, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency isassociated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7.
    11. Van Roy N, De Preter K, Hoebeeck J, Van Maerken T, Pattyn F, Mestdagh P,Vermeulen J, Vandesompele J, Speleman F. The emerging molecular pathogenesis ofneuroblastoma: implications for improved risk assessment and targeted therapy.Genome Med. 2009 Jul 27;1(7):74. doi: 10.1186/gm74.
    12. Vasudevan SA, Nuchtern JG, Shohet JM. Gene profiling of high riskneuroblastoma. World J Surg. 2005 Mar;29(3):317-24. Review.
    More

    Keywords