OMIA 002145-9544 : Colorectal cancer, hereditary nonpolyposis, MLH1-related in Macaca mulatta
Dray et al. (2018) reported a likely causal variant as "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein". These authors did not provide any details on this variant.Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLH1||mutL homolog 1||Macaca mulatta||2||NC_041755.1 (92414222..92469110)||MLH1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1014||Colorectal cancer, hereditary nonpolyposis, MLH1-related||MLH1||nonsense (stop-gain)||Naturally occurring variant||2||Bray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein"||2018||30108684|
|1013||Colorectal cancer, hereditary nonpolyposis, MLH1-related||MLH1||deletion, small (<=20)||Naturally occurring variant||2||g.99561829_99561830del||Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)"||2018||29490919|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2018||Brammer, D.W., Gillespie, P.J., Tian, M., Young, D., Raveendran, M., Williams, L.E., Gagea, M., Benavides, F.J., Perez, C.J., Broaddus, R.R., Bernacky, B.J., Barnhart, K.F., Alauddin, M.M., Bhutani, M.S., Gibbs, R.A., Sidman, R.L., Pasqualini, R., Arap, W., Rogers, J., Abee, C.R., Gelovani, J.G. :|
|MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques. Proc Natl Acad Sci U S A 115:2806-2811, 2018. Pubmed reference: 29490919. DOI: 10.1073/pnas.1722106115.|
|Dray, B.K., Raveendran, M., Harris, R.A., Benavides, F., Gray, S.B., Perez, C.J., McArthur, M.J., Williams, L.E., Baze, W.B., Doddapaneni, H., Muzny, D.M., Abee, C.R., Rogers, J. :|
|Mismatch repair gene mutations lead to lynch syndrome colorectal cancer in rhesus macaques. Genes Cancer 9:142-152, 2018. Pubmed reference: 30108684. DOI: 10.18632/genesandcancer.170.|
- Created by Frank Nicholas on 26 Mar 2018
- Changed by Frank Nicholas on 26 Mar 2018
- Changed by Frank Nicholas on 21 Sep 2018