Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?

Happle, Rudolf

doi:10.1002/ajmg.a.62075

Cited by 2 publications

(1 citation statement)

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“…In dogs, the varied coat patterns have been reported to be a consequence of retrotransposons' insertion in the PMEL (Premelanosome Protein) gene (Murphy et al, 2018). Happle (2021) has proposed that such epigenetic variants must be regulating the genes by insertion of retrotransposons, suggesting that epigenetic reprogramming is caused by the insertion of retrotransposons in genes such as PMEL , MITF , KITLG , SNAI2 , and TBX2 can also influence hypopigmentation patterning (Happle, 2021). It would be interesting to explore SINE/LINE insertions in the aforementioned genes in the Nili Ravi subtypes.…”

Section: Discussionmentioning

confidence: 99%

Identification of differential methylome signatures of white pigmented skin patches in Nili Ravi buffalo of India

Gurao

Vasisth

Singh

et al. 2022

Environ and Mol Mutagen

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The DNA methylation events mark a major epigenetic change in the genome, reflecting non-genetic disease developments and varied phenotypes. The water buffalo is a dairy production animal with wide agro-climatic distribution in India. Breed-wise the coat color of water buffalo varies from ash-gray to jet black. A typical pigmentation pattern is found in one of the breeds of North India, Nili Ravi, with variedly distributed white patches. The DNA methylation pattern could potentially reveal the epigenetic factors responsible for the pigmentation patterns. To address this question, the DNA isolated from the skin tissues of Nili Ravi with varied white pigmentation and black Murrah buffaloes was subjected to reduced representation bisulfite sequencing. DNA methylation analysis revealed, 68.44%, 63.39%, and 47.94% of the promoter regions were hypermethylated in Nili Ravi over-white versus Murrah, Nili Ravi under-white versus Murrah, and Nili Ravi under-white versus Nili Ravi over-white, respectively. Major genes identified to be differentially methylated among over-white and under-white skin tissues in Nili Ravi included TBX2, SNAI2, HERC2, and CITED1. Overall the results have indicated differential methylation patterns to be potentially involved in hyper or hypopigmentation in Nili Ravi and Murrah buffaloes.

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Section: Discussionmentioning

confidence: 99%