I wonder is there any information about the mutation in intron regions related to phenotype.
Tuğçe Olgun There are a lot of data about intron mutations that caused alternative splicing or expression regulation and led to phenotypic disorders. They were much better known for humans and animals:
Epstein DJ, Vogan KJ, Trasler DG, Gros P. A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proceedings of the National Academy of Sciences. 1993 Jan 15;90(2):532-6.
Vaz-Drago R, Custódio N, Carmo-Fonseca M. Deep intronic mutations and human disease. Human genetics. 2017 Sep 1;136(9):1093-111.
But, recently, it is well documented in plants too: Qiu T, Zhao X, Feng H, Qi L, Yang J, Peng YL, Zhao W. OsNBL3, a mitochondrion‐localized pentatricopeptide repeat protein, is involved in splicing nad5 intron 4 and its disruption causes lesion mimic phenotype with enhanced resistance to biotic and abiotic stresses. Plant biotechnology journal. 2021 Nov;19(11):2277-90.
Lasin P, Weise A, Reinders A, Ward JM. Arabidopsis Sucrose Transporter AtSuc1 introns act as strong enhancers of expression. Plant and Cell Physiology. 2020 Jun;61(6):1054-63.
Hi Tuğçe Olgun
you can also dig in the UCSC genome browser (http://genome.ucsc.edu) and see your preferred genes with access to optional variations.
stay safe
fred
In chromosome 22, there is a translocation in intron causing Haemophilia disease.
In addition to pathological mutations sensu stricto, introns also harbour functional polymorphisms that can influence the expression of the genes that host them. Some of these intronic variants may also confer susceptibility to disease or otherwise modulate the genotype-phenotype relationship. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500160/
Check https://www.scientificamerican.com/article/what-is-known-about-the-f/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544131/
Also you can read on this
https://www.frontiersin.org/articles/10.3389/fgene.2019.00327/full
Dear Dr Tuğçe Olgun . See the following useful RG link: Article Divergence between genotype and phenotype in relatives of pa...
Kindly see the following useful RG link: Article The roles of RNA processing in translating genotype to phenotype
See also the following very good useful link: Article Identification of the Sequences Responsible for the Splicing...
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