ESR1

ESR1 (estrogen receptor 1) is een gen dat transcriptiefactor ESR1 of ERα codeert. Het gen bevindt zich bij de mens op locus 6q25.1-q25.2 van chromosoom 6.^[1] Het eiwit is een oestrogeenreceptor, een kernreceptor die door oestrogeen wordt geactiveerd.

Met ERβ speelt ERα een belangrijke rol bij de ontwikkeling van de vrouwelijke geslachtsorganen en bijnierschors.^[2]

Het gen komt ook tot expressie in compact bot.^[3]

ESR1 speelt ook een rol bij de ontwikkeling van de hippocampus en het geheugen.^[4]

Aandoeningen

Homozygote mutaties in ESR1 kunnen de oorzaak zijn van het oestrogeenongevoeligheidssyndroom.^[5]

Hoewel veel genmutaties borstkanker kunnen veroorzaken, is ESR1 betrokken bij meer dan tweederde van de gevallen.^[6]

Noten

↑ Menasce, L.P. ; White, G.R.M.; Harrison, C.J.; Boyle, J.M. (1993): 'Localization of the Estrogen Receptor Locus (ESR) to Chromosome 6q25.1 by FISH and a Simple Post-FISH Banding Technique' in Genomics, Volume 17, Issue 1, p. 263-265
↑ Takeyama, J.; Suzuki, T.; Inoue, S.; Kaneko, C.; Nagura, H.; Harada, N.; Sasano, H. (2001): 'Expression and Cellular Localization of Estrogen Receptors α and β in the Human Fetus' in Journal of Clinical Endocrinology & Metabolism, Volume 86, Issue 5, p. 2258-2262
↑ Bord, S.; Horner, A.; Beavan, S.; Compston, J. (2001): 'Estrogen Receptors α and β Are Differentially Expressed in Developing Human Bone' in Journal of Clinical Endocrinology & Metabolism, Volume 86, Issue 5, p. 2309-2314. Gearchiveerd op 28 juni 2023.
↑ Jun Cho; Yu, N.K.; Choi, J.H.; Sim, S.E.; Kang, S.J.; Kwak, C.; Lee, S.W.; Kim, J.; Choi, D.I.; Kim, V.N.; Kaang, B.K. (2015): 'Multiple repressive mechanisms in the hippocampus during memory formation' in Science, Volume 350, Issue 6256, p. 82-87
↑ Smith, E.P.; Boyd, J.; Frank, G.R.; Takahashi, H.; Cohen, R.M.; Specker, B.; Williams, T.C.; Lubahn, D.B.; Korach, K.S. (1994): 'Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man' in New England Journal of Medicine, Volume 331, p. 1056-1061. Gearchiveerd op 27 juni 2023.
↑ Toy, W.; Shen, Y.; Won, H.; Green, B.; Sakr, R.A.; Will, M.; Li, Z.; Gala, K.; Fanning, S.; King, T.A.; Hudis, C.; Chen, D.; Taran, T.; Hortobagyi, G.; Greene, G.; Berger, M.; Baselga, J.; Chandarlapaty, S. (2013): 'ESR1 ligand-binding domain mutations in hormone-resistant breast cancer' in Nature Genetics, Volume 45, Issue 12, p. 1439-1445. Gearchiveerd op 27 juni 2023.

Externe links

'* 133430. ESTROGEN RECEPTOR 1; ESR1', OMIM
'# 615363. ESTROGEN RESISTANCE; ESTRR', OMIM
'# 114480. BREAST CANCER', OMIM

[1] Menasce, L.P. ; White, G.R.M.; Harrison, C.J.; Boyle, J.M. (1993): 'Localization of the Estrogen Receptor Locus (ESR) to Chromosome 6q25.1 by FISH and a Simple Post-FISH Banding Technique' in Genomics, Volume 17, Issue 1, p. 263-265

[2] Takeyama, J.; Suzuki, T.; Inoue, S.; Kaneko, C.; Nagura, H.; Harada, N.; Sasano, H. (2001): 'Expression and Cellular Localization of Estrogen Receptors α and β in the Human Fetus' in Journal of Clinical Endocrinology & Metabolism, Volume 86, Issue 5, p. 2258-2262

[3] Bord, S.; Horner, A.; Beavan, S.; Compston, J. (2001): 'Estrogen Receptors α and β Are Differentially Expressed in Developing Human Bone' in Journal of Clinical Endocrinology & Metabolism, Volume 86, Issue 5, p. 2309-2314. Gearchiveerd op 28 juni 2023.

[4] Jun Cho; Yu, N.K.; Choi, J.H.; Sim, S.E.; Kang, S.J.; Kwak, C.; Lee, S.W.; Kim, J.; Choi, D.I.; Kim, V.N.; Kaang, B.K. (2015): 'Multiple repressive mechanisms in the hippocampus during memory formation' in Science, Volume 350, Issue 6256, p. 82-87

[5] Smith, E.P.; Boyd, J.; Frank, G.R.; Takahashi, H.; Cohen, R.M.; Specker, B.; Williams, T.C.; Lubahn, D.B.; Korach, K.S. (1994): 'Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man' in New England Journal of Medicine, Volume 331, p. 1056-1061. Gearchiveerd op 27 juni 2023.

[6] Toy, W.; Shen, Y.; Won, H.; Green, B.; Sakr, R.A.; Will, M.; Li, Z.; Gala, K.; Fanning, S.; King, T.A.; Hudis, C.; Chen, D.; Taran, T.; Hortobagyi, G.; Greene, G.; Berger, M.; Baselga, J.; Chandarlapaty, S. (2013): 'ESR1 ligand-binding domain mutations in hormone-resistant breast cancer' in Nature Genetics, Volume 45, Issue 12, p. 1439-1445. Gearchiveerd op 27 juni 2023.

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