OMIA:002804-9544 : Germline mutation rate, MBD4-related in Macaca mulatta (Rhesus monkey) |
Categories: Embryo phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 603574 (gene) , 619975 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2023
Molecular basis: Stendahl et al. (2023) "identified a rhesus macaque with a rare homozygous frameshift mutation in the gene methyl-CpG binding domain 4, DNA glycosylase (MBD4). MBD4 is responsible for the repair of C>T deamination mutations at CpG dinucleotides and has been linked to somatic hypermutation and cancer predisposition in humans. [The authors] show ... that MBD4-associated hypermutation also affects the germline: the 6 offspring of the MBD4-null dam have a 4-6-fold increase in de novo mutation burden."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MBD4 | methyl-CpG binding domain 4, DNA glycosylase | Macaca mulatta | 2 | NC_041755.1 (147055810..147068052) | MBD4 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1646 | Germline mutation rate | MBD4 | deletion, small (<=20) | Naturally occurring variant | MMul10 | 2 | g.147059371del | c.984del | p.I330Sfs*2 | ENSMMUG00000012723 | 2023 | 37984997 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002804-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Stendahl, A.M., Sanghvi, R., Peterson, S., Ray, K., Lima, A.C., Rahbari, R., Conrad, D.F. : |
| A naturally occurring variant of MBD4 causes maternal germline hypermutation in primates. Genome Res , 2023. Pubmed reference: 37984997. DOI: 10.1101/gr.277977.123. |
Edit History
- Created by Imke Tammen2 on 22 Nov 2023