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OMIA:002804-9544 : Germline mutation rate, MBD4-related in Macaca mulatta (Rhesus monkey)

Categories: Embryo phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603574 (gene) , 619975 (trait)

Mendelian trait/disorder: yes

Disease-related: 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."

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 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
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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 33:2053-9, 2023. Pubmed reference: 37984997. DOI: 10.1101/gr.277977.123.

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  • Created by Imke Tammen2 on 22 Nov 2023