Department of Animal Science, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
School of Veterinary Medicine and Biomedical Sciences, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
Anim Genet. 2023 Aug;54(4):549-552. doi: 10.1111/age.13327. Epub 2023 Apr 16.
A white calf, with minimal pigmented markings, was born to two registered Black Angus parents. Given the possibility of an unknown recessive or de novo dominant mutation, whole-genome sequencing was conducted on the trio of individuals. A 3-bp in-frame deletion in MITF was identified; this mutation was unique to the calf but identical to the delR217 variant reported in both humans and murine models of Waardenburg syndrome type 2A and Tietz syndrome. Given the coat color phenotype and identity of the mutation, our data support that this calf represents the first instance of this recurring MITF mutation in cattle.
一头白色小牛，色素沉着标记极少，出生于两只注册的黑安格斯父母。鉴于未知隐性或新生显性突变的可能性，对这三个人进行了全基因组测序。在 MITF 中发现了一个 3 个碱基的框内缺失；该突变仅存在于小牛中，但与 Waardenburg 综合征 2A 型和 Tietz 综合征的人类和鼠模型中报道的 delR217 变体相同。鉴于毛色表型和突变的特征，我们的数据支持该小牛代表这种重复发生的 MITF 突变在牛中的首例。
