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A 76-base pair duplication within the enhancer region of the HMX1 gene causes sheep microtia.

Gene - 30 May 2024

Zhang Lihua, Liang Long, Kasimu Hailati, Li Wenrong, Liu Mingjun, Li Haiying, He Sangang

Abstract excerpt

Sheep congenital microtia is characterized by underdeveloped ears and provides an ideal basis for studying human microtia. This study identified the causal mutation and regulatory mechanisms underlying this disorder. Whole-genome association analysis was conducted using 23 ear tissue samples from sheep with microtia and 28 samples from normal-eared sheep. A significant correlation was found between microtia and a...

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PMID: 38395239
DOI: 10.1016/j.gene.2024.148307

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