New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region - PubMed (original) (raw)
New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
Caroline Griffin et al. Mech Dev. 2002 Mar.
Free article
Abstract
Pax6 is a key transcriptional regulator in eye, olfactory system, forebrain, pituitary cerebellum, spinal cord and pancreas development. Alternative splicing, promoter usage and multiple enhancers regulate the complex Pax6 spatio-temporal expression pattern. Chromosomal rearrangements which abolish PAX6 gene expression have been characterised downstream of the coding region. Through evolutionary sequence comparison and transgenic reporter studies, we have identified a new Pax6 3' cis-regulatory region. This region, C1170 Box 123, contains three distinct modules of human-mouse sequence conservation, while only Box 1 is conserved to Fugu. Both the human and the orthologous Fugu sequence direct similar reporter gene expression in the developing pretectum, neural retina and olfactory region, indicating evolutionary conservation of Pax6 regulatory mechanisms despite the low level of overall sequence conservation.
Similar articles
- Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity.
Kammandel B, Chowdhury K, Stoykova A, Aparicio S, Brenner S, Gruss P. Kammandel B, et al. Dev Biol. 1999 Jan 1;205(1):79-97. doi: 10.1006/dbio.1998.9128. Dev Biol. 1999. PMID: 9882499 - DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region.
McBride DJ, Buckle A, van Heyningen V, Kleinjan DA. McBride DJ, et al. PLoS One. 2011;6(12):e28616. doi: 10.1371/journal.pone.0028616. Epub 2011 Dec 29. PLoS One. 2011. PMID: 22220192 Free PMC article. - Analysis of Pax6 expression using a BAC transgene reveals the presence of a paired-less isoform of Pax6 in the eye and olfactory bulb.
Kim J, Lauderdale JD. Kim J, et al. Dev Biol. 2006 Apr 15;292(2):486-505. doi: 10.1016/j.ydbio.2005.12.041. Epub 2006 Feb 7. Dev Biol. 2006. PMID: 16464444 - PAX6 in sensory development.
van Heyningen V, Williamson KA. van Heyningen V, et al. Hum Mol Genet. 2002 May 15;11(10):1161-7. doi: 10.1093/hmg/11.10.1161. Hum Mol Genet. 2002. PMID: 12015275 Review. - Pax6: a multi-level regulator of ocular development.
Shaham O, Menuchin Y, Farhy C, Ashery-Padan R. Shaham O, et al. Prog Retin Eye Res. 2012 Sep;31(5):351-76. doi: 10.1016/j.preteyeres.2012.04.002. Epub 2012 May 3. Prog Retin Eye Res. 2012. PMID: 22561546 Review.
Cited by
- Unique activities of two overlapping PAX6 retinal enhancers.
Uttley K, Papanastasiou AS, Lahne M, Brisbane JM, MacDonald RB, Bickmore WA, Bhatia S. Uttley K, et al. Life Sci Alliance. 2023 Aug 29;6(11):e202302126. doi: 10.26508/lsa.202302126. Print 2023 Nov. Life Sci Alliance. 2023. PMID: 37643867 Free PMC article. - Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.
Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D. Daruich A, et al. Prog Retin Eye Res. 2023 Jul;95:101133. doi: 10.1016/j.preteyeres.2022.101133. Epub 2022 Oct 22. Prog Retin Eye Res. 2023. PMID: 36280537 Free PMC article. Review. - The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M. Lima Cunha D, et al. Genes (Basel). 2019 Dec 17;10(12):1050. doi: 10.3390/genes10121050. Genes (Basel). 2019. PMID: 31861090 Free PMC article. Review. - A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome.
Weisner PA, Chen CY, Sun Y, Yoo J, Kao WC, Zhang H, Baltz ET, Troy JM, Stubbs L. Weisner PA, et al. G3 (Bethesda). 2019 Nov 5;9(11):3891-3906. doi: 10.1534/g3.119.400723. G3 (Bethesda). 2019. PMID: 31554716 Free PMC article. - Implication of non-coding PAX6 mutations in aniridia.
Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, Ayuso C, Chassaing N, Calvas P, Corton M. Plaisancié J, et al. Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5. Hum Genet. 2018. PMID: 30291432
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases