ABCG2基因错义突变C21R与略阳乌鸡褐壳显著关联
张德洋和周文川并列第一作者。
收稿日期: 2024-08-05
修回日期: 2024-09-27
网络出版日期: 2024-11-19
基金资助
陕西省重点研发计划项目(2024NC-YBXM-089);陕西省农业农村厅专项计划(K3031223078);陕西省农业农村厅专项计划(K3031223151)
A non-synonymous variant of C21R in the ABCG2 gene is significantly associated with brown eggshell color of Lueyang black-boned chicken
Received date: 2024-08-05
Revised date: 2024-09-27
Online published: 2024-11-19
Supported by
Key Research and Development Program of Shaanxi Province(2024NC-YBXM-089);Project of Department of Agriculture and Rural Affairs of Shaanxi Province(K3031223078);Project of Department of Agriculture and Rural Affairs of Shaanxi Province(K3031223151)
蛋壳颜色变异是影响蛋品销售的一个重要因素。本研究以蛋壳色素原卟啉转运基因ABCG2为对象，旨在筛选出与鸡褐壳颜色变异关联的功能突变。选取381只31周龄的略阳乌鸡，每只母鸡收集3枚蛋，用L*a*b色度空间量化蛋壳颜色。用MassARRAY质谱法检测g.18378442T>C (错义突变C21R)、g.18383682A>G和g.18391548A>T的基因型，用单因素方差分析检验基因型与色度指标的关联性。在UCSC数据库调取52种鸟类物种的同源基因组序列，经序列比对，分析C21R位点的保守性。用MODELLER程序执行同源建模，分别构建C21和R21的蛋白3D结构，研究C21R对ABCG2蛋白结构的影响。结果表明，g.18378442T>C的CC基因型L值(75.3±4.0)显著低于CT (76.6±4.3)和TT (78.0±4.4)，b值(16.2±3.5)显著高于CT (15.7±3.6)和TT型(14.7±3.2)。g.18383682A>G仅与L值显著关联。g.18391548A>T与3个色度指标的关联性均不显著。C21在45种鸟类物种中均完全保守，R21仅在两个鹦形目物种中出现。结构比对结果显示，C21R将引起468个结构改变，涉及氢键(49.6%)、溶剂可及性(38.8%)、正φ转角(8.1%)和二级结构(3.5%)变化。综上所述，C21R是一个与鸡褐壳颜色变异显著关联、对ABCG2结构有潜在影响的突变；其中，CC基因型与深褐壳关联，TT与浅褐壳关联。
张德洋, 周文川, 李佳乐, 王哲鹏 . ABCG2基因错义突变C21R与略阳乌鸡褐壳显著关联[J]. 遗传, 2024 , 46(12) : 1066 -1075 . DOI: 10.16288/j.yczz.24-225
Eggshell colors have a significant effect on sale of eggs. The aim of this study is to identify sequence variants associated with color variation of chicken brown eggs in the ABCG2, a protoporphyrin transport-related gene. Three successive eggs were collected from each of 381 Lueyang black-boned hens at the 31 weeks old. Eggshell color was quantified via the L*a*b color space. g.18378442T>C (a non-synonymous mutation C21R), g.18383682A>G and g.18391548A>T were genotyped via the MassARRAY platform. The associations of genotypes with color indexes were tested by one-way ANOVA. The conservation of the C21R locus was analyzed by multiple alignment of 52 avian genomes from the UCSC database. We predicted 3D structures of ABCG2 with C21 and R21 by homology modelling using the MODELLER program to analyze effect of C21R on protein structures. Results showed that g.18378442T>C was significantly associated with L and b values. The L value (75.3±4.0) of CC was significantly lower than ones of CT (76.6±4.3) and TT (78.0±4.4) genotypes. The b value (16.2±3.5) of CC was significantly higher than ones of CT (15.7±3.6) and TT (15.7±3.6). g.18383682A>G was only associated with the L value (P<0.05). There was no any association between g.18391548A>T and three color indexes (P>0.05)。The C21 was completely conserved among 45 bird species. In contrast, the R21 was only present in two species of Psittaciformes. Structure comparisons showed that C21R potentially cause 468 structure alternations, of which 49.6% belong to hydrogen bond alternations, 38.8% for solvent accessible, 8.1% for positive φ angle and 3.5% for changes of secondary structures. In conclusion, this study identifies C21R as a molecular marker that is associated with color variation of chicken brown eggs and has a potential effect on protein structures. The CC genotype of C21R is associated with dark brown color and the TT for light brown.
| [1] | Yang N. Egg production in China: current status and outlook. Front Agr Sci Eng, 2021, 8(1): 25-34. |
| [2] | Samiullah S, Roberts JR, Chousalkar K. Eggshell color in brown-egg laying hens--a review. Poult Sci, 2015, 94(10): 2566-2575. |
| [3] | ?ekero?lu A, Duman M. Effect of egg shell colour of broiler parent stocks on hatching results, chickens performance, carcass characteristics, internal organ weights and some stress indicators. Kafkas Univ Vet Fak, 2011, 17(5): 837-842. |
| [4] | Jav?rková VG, Pokorná M, Mik?ík I, T?mová E. Concentration of egg white antimicrobial and immunomodulatory proteins is related to eggshell pigmentation across traditional chicken breeds. Poult Sci, 2019, 98(12): 6931-6941. |
| [5] | Drabik K, Karwowska M, Wengerska K, Próchniak T, Adamczuk A, Batkowska J. The variability of quality traits of table eggs and eggshell mineral composition depending on hens' breed and eggshell color. Animals (Basel), 2021, 11(5): 1204. |
| [6] | Chen Q, Huang JJ, Wang ZP. Establishment of quantization method and genetic basis analysis of brown eggshell color in the Lüeyang black-boned chicken. Sci Agric Sin, 2023, 56(17): 3452-3460. |
| 陈球, 黄晶晶, 王哲鹏. 略阳乌鸡褐壳蛋壳颜色量化体系的建立和遗传基础分析. 中国农业科学, 2023, 56(17): 3452-3460 | |
| [7] | Lang MR, Wells JW. A review of eggshell pigmentation. World's Poult Sci J, 1987, 43(3): 238-245. |
| [8] | Kennedy GY, Vevers HG. A survey of avian eggshell pigments. Comp Biochem Physiol B, 1976, 55(1): 117-123. |
| [9] | Ajioka RS, Phillips JD, Kushner JP. Biosynthesis of heme in mammals. Biochim Biophys Acta, 2006, 1763(7): 723-736. |
| [10] | Ryter SW, Tyrrell RM. The heme synthesis and degradation pathways: role in oxidant sensitivity. Heme oxygenase has both pro- and antioxidant properties. Free Radic Biol Med, 2000, 28(2): 289-309. |
| [11] | Sachar M, Anderson KE, Ma XC. Protoporphyrin IX: the good, the bad, and the ugly. J Pharmacol Exp Ther, 2016, 356(2): 267-275. |
| [12] | Wang HH, Ge Y, Zhang L, Wei YH, Li QH, Zhang XD, Pan YC. The pigments in eggshell with different colour and the pigment regulatory gene expression in corresponding chicken's shell gland. Animal, 2023, 17(5): 100776. |
| [13] | Li GQ, Chen SR, Duan ZY, Qu LJ, Xu GY, Yang N. Comparison of protoporphyrin IX content and related gene expression in the tissues of chickens laying brown-shelled eggs. Poult Sci, 2013, 92(12): 3120-3124. |
| [14] | Yang J, Mao ZQ, Wang XQ, Zhuang JJ, Gong SJ, Gao ZY, Xu GY, Yang N, Sun CJ. Identification of crucial genes and metabolites regulating the eggshell brownness in chicken. BMC Genomics, 2022, 23(1): 761. |
| [15] | Lu MY, Wang WW, Qi GH, Xu L, Wang J. Mitochondrial transcription factor A induces the declined mitochondrial biogenesis correlative with depigmentation of brown eggshell in aged laying hens. Poult Sci, 2021, 100(3): 100811. |
| [16] | Zheng CW, Li ZS, Yang N, Ning ZH. Quantitative expression of candidate genes affecting eggshell color. Animal Sci J, 2014, 85(5): 506-510. |
| [17] | Samiullah S, Roberts J, Wu SB. Downregulation of ALAS1 by nicarbazin treatment underlies the reduced synthesis of protoporphyrin IX in shell gland of laying hens. Sci Rep, 2017, 7(1): 6253. |
| [18] | Chen L, Gu XR, Huang XT, Liu R, Li JX, Hu YQ, Li GQ, Zeng T, Tian Y, Hu XX, Lu LZ, Li N. Two cis-regulatory SNPs upstream of ABCG2 synergistically cause the blue eggshell phenotype in the duck. PLoS Genet, 2020, 16(11): e1009119. |
| [19] | Liu HH, Hu J, Guo ZB, Fan WL, Xu YX, Liang SY, Liu DP, Zhang YS, Xie M, Tang J, Huang W, Zhang Q, Xi Y, Li YY, Wang L, Ma SC, Jiang Y, Feng YL, Wu YB, Cao JT, Zhou ZK, Hou SS. A single nucleotide polymorphism variant located in the cis-regulatory region of the ABCG2 gene is associated with mallard egg colour. Mol Ecol, 2021, 30(6): 1477-1491. |
| [20] | Eckenstaler R, Benndorf RA. 3D structure of the transporter ABCG2-What's new? Br J Pharmacol, 2020, 177(7): 1485-1496. |
| [21] | Ogino T, Kobuchi H, Munetomo K, Fujita H, Yamamoto M, Utsumi T, Inoue K, Shuin T, Sasaki J, Inoue M, Utsumi K. Serum-dependent export of protoporphyrin IX by ATP-binding cassette transporter G2 in T24 cells. Mol Cell Biochem, 2011, 358(1-2): 297-307. |
| [22] | Li GQ, Sun CJ, Wu GQ, Shi FY, Liu AQ, Yang N. iTRAQ-based quantitative proteomics identifies potential regulatory proteins involved in chicken eggshell brownness. PLoS One, 2016, 11(12): e0168750. |
| [23] | Kalev I, Habeck M. HHfrag: HMM-based fragment detection using HHpred. Bioinformatics, 2011, 27(22): 3110-3116. |
| [24] | S?ding J, Biegert A, Lupas AN. The HHpred interactive server for protein homology detection and structure prediction. Nucleic Acids Research, 2005, 33: W244-W248. |
| [25] | Sali A, Blundell TL. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol, 1993, 234(3): 779-815 |
| [26] | Kuntal BK, Aparoy P, Reddanna P. EasyModeller: a graphical interface to MODELLER. BMC Res Notes, 2010, 3: 226. |
| [27] | Mizuguchi K, Deane CM, Blundell TL, Johnson MS, Overington JP. JOY: protein sequence-structure representation and analysis. Bioinformatics, 1998, 14(7): 617-623. |
| [28] | Chen Q, Wang ZP. A new molecular mechanism supports that blue-greenish egg color evolved independently across chicken breeds. Poult Sci, 2022, 101(12): 102223. |
| [29] | Wang ZP, Chen Q, Wang YW, Wang YL, Liu RF. Refine localizations of functional variants affecting eggshell color of Lueyang black-boned chicken in the SLCO1B3. Poult Sci, 2024, 103(1): 103212. |
| [30] | Zeng LS, Xu GY, Jiang CY, Li JY, Zheng JX. Research note: L*a*b* color space for prediction of eggshell pigment content in differently colored eggs. Poult Sci, 2022, 101(8): 101942. |
| [31] | Hagenbuch B, Gui C. Xenobiotic transporters of the human organic anion transporting polypeptides (OATP) family. Xenobiotica, 2008, 38(7-8): 778-801. |
| [32] | Wang ZP, Qu LJ, Yao JF, Yang XL, Li GQ, Zhang YY, Li JY, Wang XT, Bai JR, Xu GY, Deng XM, Yang N, Wu CX. An EAV-HP insertion in 5' Flanking region of SLCO1B3 causes blue eggshell in the chicken. PLoS Genet, 2013, 9(1): e1003183. |
| [33] | Guharoy M, Chakrabarti P. Conservation and relative importance of residues across protein-protein interfaces. Proc Natl Acad Sci USA, 2005, 102(43): 15447-15452 |
| [34] | Marino SM, Gladyshev VN. Cysteine function governs its conservation and degeneration and restricts its utilization on protein surfaces. J Mol Biol, 2010, 404: 902-916. |
| [35] | Xiong J, Feng JM, Yuan DX, Zhou J, Miao W. Tracing the structural evolution of eukaryotic ATP binding cassette transporter superfamily. Sci Rep, 2015, 5: 16724. |
| [36] | Stanchev LD, Marek M, Xian F, Kl?hn M, Silvestro D, Dittmar G, López-Marqués RL, Günther Pomorski T. Functional significance of conserved cysteines in the extracellular loops of the ATP binding cassette transporter Pdr11p. J Fungi (Basel), 2020, 7(1): 2. |
| [37] | Furukawa T, Wakabayashi K, Tamura A, Nakagawa H, Morishima Y, Osawa Y, Ishikawa T. Major SNP(Q141K) variant of human ABC transporter ABCG2 undergoes lysosomal and proteasomal degradations. Pharm Res, 2009, 26(2): 469-479. |
| [38] | Holm R, Khandelwal J, Einholm AP, Andersen JP, Artigas P, Vilsen B. Arginine substitution of a cysteine in transmembrane helix M8 converts Na+, K+-ATPase to an electroneutral pump similar to H+, K+-ATPase. Proc Natl Acad Sci USA, 2017, 114(2): 316-321. |
| [39] | Chakkalakal SA, Heilig J, Baumann U, Paulsson M, Zaucke F. Impact of arginine to cysteine mutations in collagen II on protein secretion and cell survival. Int J Mol Sci, 2018, 19(2): 541. |
| [40] | Kumar R, Kumar R, Tanwar P, Deo SVS, Mathur S, Agarwal U, Hussain S. Structural and conformational changes induced by missense variants in the zinc finger domains of GATA3 involved in breast cancer. RSC Adv, 2020, 10(65): 39640-39653. |
/
| 〈 |
|
〉 |
www.chinagene.cn
备案号：京ICP备09063187号-4
总访问:,今日访问:,当前在线:
