The v 24 Allele is a Missense Mutation Within the Predicted Tryptophan 2,3-dioxygenase Protein Domain of vermilion.

microPublication biology Pub Date : 2025-08-18 eCollection Date: 2025-01-01 DOI:10.17912/micropub.biology.001760
Lorielle M Raab, Steve Kucera, Brian Oliver, Leif Benner
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Abstract

Many loss-of-function mutations in the Drosophila vermilion ( v ) gene have been described. However, the causal mutation in the common v 24 allele is unknown. We sequenced different v alleles ( v 24 , v + , and v 1 ) to identify candidate v 24 mutations. We identified a single T>A missense mutation shared among the three v 24 chromosomes, resulting in a Phe>Ile amino acid change within the predicted tryptophan 2,3-dioxygenase protein domain. This same T>A missense mutation has been independently shown to result in a v - phenotype by Nivard et al., 1993 and is therefore strong corroborating evidence that this mutation is causal for the v - phenotype in the v 24 allele.

Abstract Image

v24等位基因是预测的朱砂色氨酸2,3-双加氧酶蛋白结构域内的错义突变。
许多功能缺失突变的果蝇朱砂(v)基因已被描述。然而,常见的v24等位基因的致病突变是未知的。我们对不同的v等位基因(v 24、v +和v 1)进行测序,以确定候选的v 24突变。我们发现了一个单一的T bbbba错义突变,在三条v24染色体中共享,导致在预测的色氨酸2,3-双加氧酶蛋白结构域内的Phe>Ile氨基酸改变。Nivard等人(1993)已经独立证明了同样的T bbbba错义突变会导致v -表型,因此有力地证实了该突变是v 24等位基因中v -表型的原因。
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