Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) Gene Associated with the Feline AB Blood Group System.
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) Gene Associated with the Feline AB Blood Group System.
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DOI：
10.1371/journal.pone.0165000
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发表时间：
2016
期刊：
影响因子：
3.7
通讯作者：
Ikemoto S
中科院分区：
文献类型：
--
作者：
Omi T;Nakazawa S;Udagawa C;Tada N;Ochiai K;Chong YH;Kato Y;Mitsui H;Gin A;Oda H;Azakami D;Tamura K;Sako T;Inagaki T;Sakamoto A;Tsutsui T;Bonkobara M;Tsuchida S;Ikemoto S
猫的AB血型系统（血型A、B和AB）在猫输血医学中是非常重要的。A型和B型抗原分别是Neu5Gc和Neu5Ac，参与从Neu5Ac合成Neu5Gc的酶CMAH与这种猫血型系统相关。罕见的AB型红细胞同时表达Neu5Gc和Neu5Ac。猫血清含有天然存在的抗体，针对其他血型中存在的抗原。为了了解这种血型系统的分子遗传学基础，我们研究了AB血型抗原的分布，CMAH基因的结构，突变，双体型和单体型的猫CMAH基因。血型分析显示，734只猫分析为A型（95.1%），38只猫为B型（4.9%），没有一只猫为AB型。本研究中还使用了一个三只布娃娃猫的家庭，包括两只AB型猫和一只A型猫。CMAH序列分析表明，CMAH蛋白质是从两个不同的外显子1的mRNA亚型。对34只B型猫和34只AB型猫CMAH基因编码区的16个外显子的核苷酸序列进行分析，发现了多种新的双倍型，包括几种多态性。单倍型推断，这是集中在非同义SNPs显示，8个单倍型携带1至4个突变的CMAH，和所有的猫与类型B（n = 34）和AB（n = 2）的血液携带两个等位基因来自突变的CMAH基因。这些结果表明，从猫CMAH基因座的多个隐性等位基因中选择的双单倍体与猫AB血型系统的B型和AB型的红细胞膜上Neu5 Ac的表达高度相关。
Cat’s AB blood group system (blood types A, B, and AB) is of major importance in feline transfusion medicine. Type A and type B antigens are Neu5Gc and Neu5Ac, respectively, and the enzyme CMAH participating in the synthesis of Neu5Gc from Neu5Ac is associated with this cat blood group system. Rare type AB erythrocytes express both Neu5Gc and Neu5Ac. Cat serum contains naturally occurring antibodies against antigens occurring in the other blood types. To understand the molecular genetic basis of this blood group system, we investigated the distribution of AB blood group antigens, CMAH gene structure, mutation, diplotypes, and haplotypes of the cat CMAH genes. Blood-typing revealed that 734 of the cats analyzed type A (95.1%), 38 cats were type B (4.9%), and none were type AB. A family of three Ragdoll cats including two type AB cats and one type A was also used in this study. CMAH sequence analyses showed that the CMAH protein was generated from two mRNA isoforms differing in exon 1. Analyses of the nucleotide sequences of the 16 exons including the coding region of CMAH examined in the 34 type B cats and in the family of type AB cats carried the CMAH variants, and revealed multiple novel diplotypes comprising several polymorphisms. Haplotype inference, which was focused on non-synonymous SNPs revealed that eight haplotypes carried one to four mutations in CMAH, and all cats with type B (n = 34) and AB (n = 2) blood carried two alleles derived from the mutated CMAH gene. These results suggested that double haploids selected from multiple recessive alleles in the cat CMAH loci were highly associated with the expression of the Neu5Ac on erythrocyte membrane in types B and AB of the feline AB blood group system.
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影响因子：
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作者：
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通讯作者：
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