Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1 + 714 word(s) 714 2020-12-15 07:57:26

Video Upload Options

We provide professional Video Production Services to translate complex research into visually appealing presentations. Would you like to try it?

Confirm

Are you sure to Delete?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Liu, D. IL7R Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4177 (accessed on 26 December 2024).
Liu D. IL7R Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4177. Accessed December 26, 2024.
Liu, Dean. "IL7R Gene" Encyclopedia, https://encyclopedia.pub/entry/4177 (accessed December 26, 2024).
Liu, D. (2020, December 23). IL7R Gene. In Encyclopedia. https://encyclopedia.pub/entry/4177
Liu, Dean. "IL7R Gene." Encyclopedia. Web. 23 December, 2020.
IL7R Gene
Edit

Interleukin 7 receptor

genes

1. Introduction

The IL7R gene provides instructions for making a protein called interleukin 7 (IL-7) receptor alpha chain. This protein is one piece of both the IL-7 receptor and the thymic stromal lymphopoietin (TSLP) receptor. These receptors are embedded in the cell membrane of immune system cells. The IL-7 receptor is found in B cells and T cells as well as the early blood-forming cells that give rise to them. The TSLP receptor is found in several types of immune cells, including B cells, T cells, monocytes, and dendritic cells. These cells identify foreign substances and defend the body against infection and disease.

At the cell surface, the IL-7 receptor interacts with a protein called IL-7. IL-7 is a cytokine, which is a protein that regulates the activity of immune system cells. The receptor and cytokine fit together like a lock and its key, triggering a series of chemical signals inside the cell. In early blood-forming cells, signaling through the IL-7 receptor ensures the development of mature B cells and T cells. IL-7 receptor signaling also stimulates the later growth and division (proliferation) and survival of these cells.

Similarly, the TSLP receptor interacts with the cytokine TSLP. Attachment of TSLP to its receptor triggers a set of signals that support proliferation and maturation of a variety of immune system cells.

2. Health Conditions Related to Genetic Changes

2.1. Multiple Sclerosis

A common variation of the IL-7R gene increases the risk of developing multiple sclerosis. This condition affects the brain and spinal cord (central nervous system), causing muscle weakness, poor coordination, numbness, and a variety of other health problems. The genetic variation involved in multiple sclerosis affects a single protein building block (amino acid) in the IL-7 receptor alpha chain, specifying the amino acid isoleucine at position 244 instead of the amino acid threonine (written as Thr244Ile). The IL-7 receptor that contains this version of the alpha chain is not embedded in the cell surface but is instead found inside the cell. It is not clear if this alpha chain variant affects the TSLP receptor.

Because the IL7R gene is involved in regulation of the immune system, changes in it might be involved in the autoimmune response and inflammation that damage nerves and the protective coating surrounding them (the myelin sheath), leading to the signs and symptoms of multiple sclerosis. (Autoimmunity occurs when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.) However, it is unclear exactly what role the IL-7R gene variant plays in development of multiple sclerosis. It is likely that a combination of genetic and environmental factors is involved.

2.2. Other Disorders

Mutations in the IL7R gene can cause a form of severe combined immunodeficiency (SCID), in which affected individuals have decreased immune function and are prone to recurrent and persistent infections. Affected individuals with IL7R gene mutations have few or no T cells but normal numbers of B cells and another type of immune cell called NK cells. This form of the condition is called T-B+NK+ SCID. Many IL7R gene mutations that cause SCID prevent the production of the IL-7 receptor alpha chain, which impairs IL-7 receptor and TSLP receptor signaling. Without this signaling, development of T cells is disrupted. A lack of T cells reduces the immune system's ability to fight infections, leading to recurrent infections in people with T-B+NK+ SCID.

Mutations in the IL7R gene can also cause cancers of blood-forming cells, specifically B-cell acute lymphoblastic leukemia (ALL), which is characterized by elevated numbers of B cells in the blood, and T-cell ALL, characterized by elevated numbers of T cells. The mutations associated with these cancers lead to an altered IL-7 receptor alpha chain. With this alteration, signaling pathways like those triggered by the IL-7 receptor or the TSLP receptor are constantly turned on (constitutively active) even without cytokine interaction. Constant signaling increases proliferation and survival of B cells or T cells, leading to ALL.

3. Other Names for This Gene

  • CD127

  • CD127 antigen

  • CDW127

  • IL-7 receptor subunit alpha

  • IL-7R subunit alpha

  • IL-7R-alpha

  • IL-7RA

  • IL7RA

  • IL7RA_HUMAN

  • ILRA

  • interleukin 7 receptor alpha chain

  • interleukin 7 receptor isoform H5-6

  • interleukin-7 receptor subunit alpha

  • interleukin-7 receptor subunit alpha precursor

References

  1. Akashi K, Kondo M, Weissman IL. Role of interleukin-7 in T-cell developmentfrom hematopoietic stem cells. Immunol Rev. 1998 Oct;165:13-28. Review.
  2. Corfe SA, Paige CJ. The many roles of IL-7 in B cell development; mediator of survival, proliferation and differentiation. Semin Immunol. 2012Jun;24(3):198-208. doi: 10.1016/j.smim.2012.02.001.
  3. Giliani S, Mori L, de Saint Basile G, Le Deist F, Rodriguez-Perez C, Forino C,Mazzolari E, Dupuis S, Elhasid R, Kessel A, Galambrun C, Gil J, Fischer A,Etzioni A, Notarangelo LD. Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunol Rev. 2005 Feb;203:110-26. Review.
  4. Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, Caillier SJ,Ban M, Goris A, Barcellos LF, Lincoln R, McCauley JL, Sawcer SJ, Compston DA,Dubois B, Hauser SL, Garcia-Blanco MA, Pericak-Vance MA, Haines JL; MultipleSclerosis Genetics Group. Interleukin 7 receptor alpha chain (IL7R) shows allelicand functional association with multiple sclerosis. Nat Genet. 2007Sep;39(9):1083-91.
  5. He R, Geha RS. Thymic stromal lymphopoietin. Ann N Y Acad Sci. 2010Jan;1183:13-24. doi: 10.1111/j.1749-6632.2009.05128.x. Review.
  6. Lundmark F, Duvefelt K, Iacobaeus E, Kockum I, Wallström E, Khademi M, Oturai A, Ryder LP, Saarela J, Harbo HF, Celius EG, Salter H, Olsson T, Hillert J.Variation in interleukin 7 receptor alpha chain (IL7R) influences risk ofmultiple sclerosis. Nat Genet. 2007 Sep;39(9):1108-13.
  7. Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression inT(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998 Dec;20(4):394-7.
  8. Shochat C, Tal N, Bandapalli OR, Palmi C, Ganmore I, te Kronnie G, Cario G,Cazzaniga G, Kulozik AE, Stanulla M, Schrappe M, Biondi A, Basso G, Bercovich D, Muckenthaler MU, Izraeli S. Gain-of-function mutations in interleukin-7receptor-α (IL7R) in childhood acute lymphoblastic leukemias. J Exp Med. 2011 May9;208(5):901-8. doi: 10.1084/jem.20110580.Med. 2011 Jun 6;208(6):1333. J Exp Med. 2011 May 9;208(5):preceding 901.
  9. Zenatti PP, Ribeiro D, Li W, Zuurbier L, Silva MC, Paganin M, Tritapoe J,Hixon JA, Silveira AB, Cardoso BA, Sarmento LM, Correia N, Toribio ML, Kobarg J, Horstmann M, Pieters R, Brandalise SR, Ferrando AA, Meijerink JP, Durum SK, YunesJA, Barata JT. Oncogenic IL7R gain-of-function mutations in childhood T-cellacute lymphoblastic leukemia. Nat Genet. 2011 Sep 4;43(10):932-9. doi:10.1038/ng.924.
More
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
View Times: 418
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
1000/1000
Video Production Service