Association of a P2RX7 gene missense variant with brachycephalic dog breeds.
Association of a P2RX7 gene missense variant with brachycephalic dog breeds.
复制标题
P2RX7 基因错义变异与短头犬品种的关联。
DOI：
10.1111/age.12884
复制
发表时间：
2020
期刊：
影响因子：
2.4
通讯作者：
Sophocleous RA
中科院分区：
文献类型：
--
作者：
Sophocleous RA
错义变体与犬的各种表型性状和疾病相关。编码ATP门控P2X7受体离子通道的犬P2RX7基因包含四种已知的错义变体。本研究旨在检查系谱和混合系谱犬的随机样本中是否存在这些变体。通过桑格测序对65只狗的P2RX 7基因外显子3、8、11和13进行了评估，并与另外69只狗的现有测序数据相结合。然后在所有134只犬中评价这些变异体的分布，并在包括35个不同纯种犬的单个品种中单独评价。在所有研究的狗中，rs23314713（p.Phe103Leu）和rs23315462（p.Pro452Ser）变体分别存在于47%和40%的狗中，其中rs23314713变体与短头品种相关。在系谱犬中，rs23314713和rs23315462变体分别与短头和非短头品种相关。rs851148233（p.Arg270Cys）和rs850760787（p.Arg365Gln）变异分别只存在于可卡犬和拉布拉多犬的家系中。在犬P2RX7基因第3、8、11和13外显子未发现其他错义突变。总之，P2RX7基因的rs23314713和rs23315462错义变体存在于大部分犬中，其中rs23314713变体与许多短头犬品种相关。然而，不能排除这种变异与斗牛犬血统的狗，而不是brachycephalyper本身的关联。
Missense variants are associated with various phenotypic traits and disorders in dogs. The canineP2RX7gene, coding the ATP‐gated P2X7 receptor ion channel, contains four known missense variants. The current study aimed to examine the presence of these variants in a random sample of pedigree and mixed‐pedigree dogs. Exons 3, 8, 11 and 13 of theP2RX7gene, encoding these four respective variants, in 65 dogs were assessed by Sanger sequencing and combined with existing sequencing data from another 69 dogs. The distribution of these variants was then evaluated in all 134 dogs combined and separately within individual breeds including 35 different pure breeds. The rs23314713 (p.Phe103Leu) and rs23315462 (p.Pro452Ser) variants were present in 47 and 40% of all dogs studied respectively, with the rs23314713 variant associated with brachycephalic breeds. Among pedigree dogs, the rs23314713 and rs23315462 variants were associated with brachycephalic and non‐brachycephalic breeds respectively. The rs851148233 (p.Arg270Cys) and rs850760787 (p.Arg365Gln) variants were present only in dogs of Cocker Spaniel and Labrador Retriever pedigrees respectively. No other missense variants were found in exons 3, 8, 11 and 13 of theP2RX7gene within the dogs. In conclusion, the rs23314713 and rs23315462 missense variants of theP2RX7gene are present in a large proportion of dogs, with the rs23314713 variant associated with a number of brachycephalic breeds. However, the association of this variant with dogs of bulldog ancestry, not brachycephalyper se, cannot be excluded.
登录
查看更多内容
影响因子：
4.5
作者：
Truvé K;Dickinson P;Xiong A;York D;Jayashankar K;Pielberg G;Koltookian M;Murén E;Fuxelius HH;Weishaupt H;Swartling FJ;Andersson G;Hedhammar Å;Bongcam-Rudloff E;Forsberg-Nilsson K;Bannasch D;Lindblad-Toh K
通讯作者：
Lindblad-Toh K
影响因子：
3.5
作者：
Zuccarini M;Giuliani P;Buccella S;Di Liberto V;Mudò G;Belluardo N;Carluccio M;Rossini M;Condorelli DF;Rathbone MP;Caciagli F;Ciccarelli R;Di Iorio P
通讯作者：
Di Iorio P
损伤相关分子模式受体 P2X7 的激活会诱导犬单核细胞释放白细胞介素 1β。
影响因子：
1.8
作者：
I. Jalilian;Michelle Peranec;Belinda L. Curtis;A. Seavers;Mari Spildrejorde;V. Sluyter;R. Sluyter
通讯作者：
R. Sluyter
影响因子：
7.3
作者：
S. Roman;FS Cusdin;Elena Fonfria;J. A. Goodwin;J. Reeves;SC Lappin;L. J. Chambers;Daryl S. Walter;W. C. Clay;Anton D. Michel
通讯作者：
Anton D. Michel
R270C 多态性导致犬 P2X7 受体功能丧失。
影响因子：
4.6
作者：
Mari Spildrejorde;R. Bartlett;L. Stokes;I. Jalilian;Michelle Peranec;V. Sluyter;Belinda L. Curtis;Kristen K Skarratt;A. Skora;T. Bakhsh;A. Seavers;J. Mcarthur;M. Dowton;R. Sluyter
通讯作者：
R. Sluyter