目的:探讨TGFα基因和TGFβ3基因多态性与国人非综合征型唇腭裂发生的关系。方法:取56例非综合征型唇腭裂(nonsyndromic cleft lip with or without palate, NSCLP)、26例单发性腭裂(cleft palate only, CPO)及28例单纯颌骨骨折患者的全...目的:探讨TGFα基因和TGFβ3基因多态性与国人非综合征型唇腭裂发生的关系。方法:取56例非综合征型唇腭裂(nonsyndromic cleft lip with or without palate, NSCLP)、26例单发性腭裂(cleft palate only, CPO)及28例单纯颌骨骨折患者的全血DNA,于TGFα基因3′端未翻译区序列(3′untranslated re-gion,3′UTR)及TGFβ3第5外显子(5th exon)序列设计引物,PCR法扩增目的片段,单链构像多态性技术分析等位基因及基因型频率在各组之间分布的差异。将目的片段克隆、测序寻找其多态位点。结果:56例NSCLP、26例CPO和28例对照组全血中均扩增出345 bp TGFα和193 bp TGFβ3目的片段。共发现TGFα3种等位基因A1、A2和A3及TGFβ3 2种等位基因B1和B2。各等位基因及基因型频数在NSCLP、CPO和对照组之间无统计学差异。测序表明TGFα存在3处多态位点和TGFβ3存在1处多态位点。结论:TGFα及TGFβ3基因多态性与我国汉族人NSCLP和CPO的发病无显著相关。展开更多
The complex genetic architecture of quality traits has hindered efforts to modify seed nutrients in soybean. Genome-wide association studies were conducted for seed composition, including protein, oil, fatty acids, an...The complex genetic architecture of quality traits has hindered efforts to modify seed nutrients in soybean. Genome-wide association studies were conducted for seed composition, including protein, oil, fatty acids, and amino acids, using 313 diverse soybean germplasm accessions genotyped with a high-density SNP array. A total of 87 chromosomal regions were identified to be associated with seed composition, explain- ing 8%-89% of genetic variances. The candidate genes GmSAT1, AK-HSDH, SACPD-C, and FAD3A of known function, and putative MtN21 nodulin, FATB, and steroid-5-^-reductase involved in N2 fixation, amino acid biosynthesis, and fatty acid metabolism were found at the major-effect loci. Further analysis of additional germplasm accessions indicated that these major-effect loci had been subjected to domes- tication or modern breeding selection, and the allelic variants and distributions were relevant to geographic regions. We also revealed that amino acid concentrations related to seed weight and to total protein had a different genetic basis. This helps uncover the in-depth genetic mechanism of the intricate relationships among the seed compounds. Thus, our study not only provides valuable genes and markers for soybean nutrient improvement, both quantitatively and qualitatively, but also offers insights into the alteration of soybean quality during domestication and breeding.展开更多
Background: Runs of homozygosity(ROHs) are homozygous segments of the genome where the two haplotypes inherited from the parents are identical. The current availability of genotypes for a very large number of single n...Background: Runs of homozygosity(ROHs) are homozygous segments of the genome where the two haplotypes inherited from the parents are identical. The current availability of genotypes for a very large number of single nucleotide polymorphisms(SNPs) is leading to more accurate characterization of ROHs in the whole genome. Here,we investigated the occurrence and distribution of ROHs in 3,692 Large White pigs and compared estimates of inbreeding coefficients calculated based on ROHs(FROH), homozygosity(FHOM), genomic relationship matrix(FGRM)and pedigree(FPED). Furthermore, we identified genomic regions with high ROH frequencies and annotated their candidate genes.Results: In total, 176,182 ROHs were identified from 3,569 animals, and all individuals displayed at least one ROH longer than 1 Mb. The ROHs identified were unevenly distributed on the autosomes. The highest and lowest coverages of Sus scrofa chromosomes(SSC) by ROH were on SSC14 and SSC13, respectively. The highest pairwise correlation among the different inbreeding coefficient estimates was 0.95 between FROH_totaland FHOM, while the lowest was-0.083 between FGRMand FPED. The correlations between FPEDand FROHusing four classes of ROH lengths ranged from 0.18 to 0.37 and increased with increasing ROH length, except for ROH > 10 Mb. Twelve ROH islands were located on four chromosomes(SSC1, 4, 6 and 14). These ROH islands harboured genes associated with reproduction, muscular development, fat deposition and adaptation, such as SIRT1, MYPN, SETDB1 and PSMD4.Conclusion: FROHcan be used to accurately assess individual inbreeding levels compared to other inbreeding coefficient estimators. In the absence of pedigree records, FROHcan provide an alternative to inbreeding estimates.Our findings can be used not only to effectively increase the response to selection by appropriately managing the rate of inbreeding and minimizing the negative effects of inbreeding depression but also to help detect genomic regions with an effect on traits under selection.展开更多
小麦籽粒大小和形态是决定产量的主要因素之一,挖掘籽粒大小和形态性状的关联位点,筛选相关候选基因对于提高小麦产量具有重要意义。本研究以国内外具有代表性的300份冬小麦自然群体为研究材料,对千粒重、粒长、粒宽、粒厚、籽粒长宽比...小麦籽粒大小和形态是决定产量的主要因素之一,挖掘籽粒大小和形态性状的关联位点,筛选相关候选基因对于提高小麦产量具有重要意义。本研究以国内外具有代表性的300份冬小麦自然群体为研究材料,对千粒重、粒长、粒宽、粒厚、籽粒长宽比、籽粒面积、籽粒周长、籽粒形状和籽粒饱满度等9个籽粒性状进行表型鉴定,利用小麦90 K SNP芯片进行基因型采集,通过混合线性模型(MLM+Q+K)对籽粒大小和形态性状进行全基因组关联分析。研究结果表明,小麦籽粒大小和形态性状表现出丰富的表型变异,变异系数范围3.80%~26.06%,广义遗传力在56.25%~91.98%之间。通过GWAS检测出66个与籽粒大小和形态相关的稳定关联位点(P≤0.001),分布在除3D、4D、5D外的18条染色体上,可解释3.74%~14.34%的表型变异。检测到37个与两个及以上籽粒性状关联的一因多效位点,其中3B染色体的BS00022512_51标记同时与4个籽粒性状(粒长、粒宽、粒厚和籽粒长宽比)关联,具有最大的表型贡献率(7.06%~14.34%),6D染色体的wsnp_Ex_c4480_8055475标记同时与除粒厚、籽粒形状和籽粒饱满度以外的6个籽粒性状关联,表型贡献率为3.81%~8.25%。将BS00022512_51和wsnp_Ex_c4480_8055475标记进行单倍型分析,发现位于6D染色体上的wsnp_Ex_c4480_8055475位点存在GC-Hap1、ATHap2和AC-Hap3三种单倍型,单倍型GC-Hap1为籽粒较大的高千粒重单倍型。3种单倍型的整体分布频率分别为65.58%、32.25%和2.17%,单倍型GC-Hap1在中国4个冬麦区品种(系)中被大量选育。对37个一因多效位点进行发掘,筛选到9个籽粒大小和形态性状相关的候选基因。展开更多
基金This work was supported by the National Natural Sciences Foundation of China (No.30340068) and the Scientific Research Foun-dation for the Returned Overseas Chinese Scholars, State Education Ministry.
文摘目的:探讨TGFα基因和TGFβ3基因多态性与国人非综合征型唇腭裂发生的关系。方法:取56例非综合征型唇腭裂(nonsyndromic cleft lip with or without palate, NSCLP)、26例单发性腭裂(cleft palate only, CPO)及28例单纯颌骨骨折患者的全血DNA,于TGFα基因3′端未翻译区序列(3′untranslated re-gion,3′UTR)及TGFβ3第5外显子(5th exon)序列设计引物,PCR法扩增目的片段,单链构像多态性技术分析等位基因及基因型频率在各组之间分布的差异。将目的片段克隆、测序寻找其多态位点。结果:56例NSCLP、26例CPO和28例对照组全血中均扩增出345 bp TGFα和193 bp TGFβ3目的片段。共发现TGFα3种等位基因A1、A2和A3及TGFβ3 2种等位基因B1和B2。各等位基因及基因型频数在NSCLP、CPO和对照组之间无统计学差异。测序表明TGFα存在3处多态位点和TGFβ3存在1处多态位点。结论:TGFα及TGFβ3基因多态性与我国汉族人NSCLP和CPO的发病无显著相关。
文摘The complex genetic architecture of quality traits has hindered efforts to modify seed nutrients in soybean. Genome-wide association studies were conducted for seed composition, including protein, oil, fatty acids, and amino acids, using 313 diverse soybean germplasm accessions genotyped with a high-density SNP array. A total of 87 chromosomal regions were identified to be associated with seed composition, explain- ing 8%-89% of genetic variances. The candidate genes GmSAT1, AK-HSDH, SACPD-C, and FAD3A of known function, and putative MtN21 nodulin, FATB, and steroid-5-^-reductase involved in N2 fixation, amino acid biosynthesis, and fatty acid metabolism were found at the major-effect loci. Further analysis of additional germplasm accessions indicated that these major-effect loci had been subjected to domes- tication or modern breeding selection, and the allelic variants and distributions were relevant to geographic regions. We also revealed that amino acid concentrations related to seed weight and to total protein had a different genetic basis. This helps uncover the in-depth genetic mechanism of the intricate relationships among the seed compounds. Thus, our study not only provides valuable genes and markers for soybean nutrient improvement, both quantitatively and qualitatively, but also offers insights into the alteration of soybean quality during domestication and breeding.
基金supported by the Natural Science Foundation of China (No.31572357) to FPZthe National Swine Industry Technology System(CARS-35) to LXW。
文摘Background: Runs of homozygosity(ROHs) are homozygous segments of the genome where the two haplotypes inherited from the parents are identical. The current availability of genotypes for a very large number of single nucleotide polymorphisms(SNPs) is leading to more accurate characterization of ROHs in the whole genome. Here,we investigated the occurrence and distribution of ROHs in 3,692 Large White pigs and compared estimates of inbreeding coefficients calculated based on ROHs(FROH), homozygosity(FHOM), genomic relationship matrix(FGRM)and pedigree(FPED). Furthermore, we identified genomic regions with high ROH frequencies and annotated their candidate genes.Results: In total, 176,182 ROHs were identified from 3,569 animals, and all individuals displayed at least one ROH longer than 1 Mb. The ROHs identified were unevenly distributed on the autosomes. The highest and lowest coverages of Sus scrofa chromosomes(SSC) by ROH were on SSC14 and SSC13, respectively. The highest pairwise correlation among the different inbreeding coefficient estimates was 0.95 between FROH_totaland FHOM, while the lowest was-0.083 between FGRMand FPED. The correlations between FPEDand FROHusing four classes of ROH lengths ranged from 0.18 to 0.37 and increased with increasing ROH length, except for ROH > 10 Mb. Twelve ROH islands were located on four chromosomes(SSC1, 4, 6 and 14). These ROH islands harboured genes associated with reproduction, muscular development, fat deposition and adaptation, such as SIRT1, MYPN, SETDB1 and PSMD4.Conclusion: FROHcan be used to accurately assess individual inbreeding levels compared to other inbreeding coefficient estimators. In the absence of pedigree records, FROHcan provide an alternative to inbreeding estimates.Our findings can be used not only to effectively increase the response to selection by appropriately managing the rate of inbreeding and minimizing the negative effects of inbreeding depression but also to help detect genomic regions with an effect on traits under selection.
文摘【目的】小麦籽粒超氧化物歧化酶活性对小麦面粉色泽和营养品质具有重要影响,挖掘与小麦籽粒超氧化物歧化酶(superoxide dismutase,SOD)活性显著关联位点及候选基因,为揭示小麦籽粒SOD活性的遗传机理和小麦面粉色泽的遗传改良奠定基础。【方法】采用氮蓝四唑(nitro-blue tetrazolium,NBT)光化还原法对3个环境下种植的212份普通小麦品种(系)进行SOD活性检测,结合90K SNP芯片的16705个高质量SNP标记对小麦籽粒SOD活性进行全基因组关联分析(genome-wide association study,GWAS),并对稳定遗传的显著关联位点进行候选基因的挖掘。【结果】不同环境下,各小麦品种(系)间的SOD活性表现出丰富的表型变异,变异系数为4.34%—5.23%,相关系数介于0.60—0.90(P<0.001)。多态性信息含量(polymorphic information content,PIC)为0.24—0.29。全基因组连锁不平衡(linkage disequilibrium,LD)衰减距离为7 Mb。群体结构分析表明,供试材料可分为3个亚群。GWAS分析结果显示,共检测到29个与SOD活性显著关联位点(P≤0.001),分布在1A、1B、2A、2B、2D、3B、3D、4B、4D、5A、5B、5D、6A、6B、6D和7B染色体上,单个位点可解释5.47%—32.43%的表型变异,其中14个位点在2个及以上环境下均被检测到。9个显著关联位点在3个环境下被同时检测到,分布于1B、2B、4B、5A、5B、6B和6D染色体,贡献率为6.21%—16.62%。对稳定遗传的显著关联位点进行候选基因的挖掘,共挖掘TraesCS2B01G567600、TraesCS3D01G069900、TraesCS3D01G070200、TraesCS5B01G525700、TraesCS5B01G373700、TraesCS6A01G021400和TraesCS6D01G431500等7个SOD基因和TraesCS5A01G263500、TraesCS6B01G707800等2个与SOD活性相关的候选基因,候选基因的功能主要与抑制细胞活性氧积累及参与抗氧化剂再生过程有关。【结论】检测到与小麦籽粒SOD活性显著关联的29个SNP位点,共筛选出7个SOD基因和2个与SOD活性有关的候选基因。
文摘小麦籽粒大小和形态是决定产量的主要因素之一,挖掘籽粒大小和形态性状的关联位点,筛选相关候选基因对于提高小麦产量具有重要意义。本研究以国内外具有代表性的300份冬小麦自然群体为研究材料,对千粒重、粒长、粒宽、粒厚、籽粒长宽比、籽粒面积、籽粒周长、籽粒形状和籽粒饱满度等9个籽粒性状进行表型鉴定,利用小麦90 K SNP芯片进行基因型采集,通过混合线性模型(MLM+Q+K)对籽粒大小和形态性状进行全基因组关联分析。研究结果表明,小麦籽粒大小和形态性状表现出丰富的表型变异,变异系数范围3.80%~26.06%,广义遗传力在56.25%~91.98%之间。通过GWAS检测出66个与籽粒大小和形态相关的稳定关联位点(P≤0.001),分布在除3D、4D、5D外的18条染色体上,可解释3.74%~14.34%的表型变异。检测到37个与两个及以上籽粒性状关联的一因多效位点,其中3B染色体的BS00022512_51标记同时与4个籽粒性状(粒长、粒宽、粒厚和籽粒长宽比)关联,具有最大的表型贡献率(7.06%~14.34%),6D染色体的wsnp_Ex_c4480_8055475标记同时与除粒厚、籽粒形状和籽粒饱满度以外的6个籽粒性状关联,表型贡献率为3.81%~8.25%。将BS00022512_51和wsnp_Ex_c4480_8055475标记进行单倍型分析,发现位于6D染色体上的wsnp_Ex_c4480_8055475位点存在GC-Hap1、ATHap2和AC-Hap3三种单倍型,单倍型GC-Hap1为籽粒较大的高千粒重单倍型。3种单倍型的整体分布频率分别为65.58%、32.25%和2.17%,单倍型GC-Hap1在中国4个冬麦区品种(系)中被大量选育。对37个一因多效位点进行发掘,筛选到9个籽粒大小和形态性状相关的候选基因。
