Abitbol Marie, Cloquell Ana, Kaczmarska Adriana, Holmes Karen, Lühken Gesine, Macaulay Kristina
Université de Lyon, VetAgro Sup, Marcy-l'Etoile, France.
Institut NeuroMyoGène INMG-PGNM, CNRS UMR5261, INSERM U1315, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon 1, Lyon, France.
Anim Genet. 2025 Jun;56(3):e70020. doi: 10.1111/age.70020.
Feline minimal white spotting associated with blue eyes, a trait called DBE by breeders for dominant blue eyes, was selected recently to create various lineages of cats and the Celestial breed. Previously, we identified three Paired Box 3 (PAX3) gene variants that account for some of the DBE phenotypes in cats, confirming different founding effects. Using a candidate gene approach, we identified a fourth PAX3 variant in a purebred Maine Coon lineage segregating for DBE and lacking a previously identified genomic variant. Segregation of the variant was consistent with the dominant inheritance pattern observed in this DBE lineage called the "Agostino line" by breeders. This PAX3:c.160del frameshift variant, located in PAX3 exon 2, was predicted to produce a truncated PAX3 protein: PAX3:p.(His54ThrTer108) that would lack 78% of the amino acids of the wildtype protein. All 13 DBE Maine Coon cats from the line were heterozygous for the variant, that was absent in all non-DBE Maine Coon cats from the line and in all control cat genomes (n > 300). We propose that this PAX3:c.160del variant represents the DBE (Agostino Dominant Blue Eyes) allele in the domestic cat. In addition, we improved the phenotypic description of DBE in Maine Coon cats, highlighting the need to reassess the prevalence of deafness and revealing the existence of latent cats in the previously described DBE (Rociri Elvis Dominant Blue Eyes) Maine Coon lineage.
与蓝眼相关的猫科动物最小白色斑点，育种者将这种特征称为显性蓝眼（DBE），最近被用于培育各种猫系和天眼神猫品种。此前，我们鉴定出三个配对盒3（PAX3）基因变体，它们可解释猫的部分DBE表型，证实了不同的奠基效应。通过候选基因方法，我们在一个纯种缅因库恩猫系中鉴定出第四个PAX3变体，该猫系存在DBE性状分离且缺乏先前鉴定的基因组变体。该变体的分离与在这个被育种者称为“阿戈斯蒂诺系”的DBE猫系中观察到的显性遗传模式一致。这个位于PAX3外显子2的PAX3:c.160del移码变体预计会产生截短的PAX3蛋白：PAX3:p.(His54ThrTer108)，该蛋白将缺少野生型蛋白78%的氨基酸。该系的所有13只DBE缅因库恩猫均为该变体的杂合子，该变体在该系所有非DBE缅因库恩猫以及所有对照猫基因组（n > 300）中均不存在。我们提出，这个PAX3:c.160del变体代表家猫中的DBE（阿戈斯蒂诺显性蓝眼）等位基因。此外，我们改进了缅因库恩猫中DBE的表型描述，强调了重新评估耳聋患病率的必要性，并揭示了先前描述的DBE（罗西里·埃尔维斯显性蓝眼）缅因库恩猫系中潜在猫的存在。
