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In China, rice (Oryza sativa L.) is a major cereal crop of great importance maintaining the food security and sustainable agricultural development. Jiangsu is one of the main provinces for rice production. After more than 40 years of development, the yield and quality of rice grain have made great progress. Rice grain quality is a complex trait involving production, processing, marketing and consumption of the grain. In this review, we summarize the progress on the genetic basis of main grain quality traits in the rice variety breeding in Jiangsu province and point out the achievement of each milestone. With a focus on the genetic regulation of grain appearance, eating and cooking quality and nutritional quality, we describe the classic genetic rules and molecular basis of rice grain quality traits and review the function of major genes that regulate corresponding traits. The genetics and improvement of grain quality achieved in Jiangsu province was highlighted on the domestic and international rice breeding programs. In particular, with the advance of breeding conception in terms of functional genomics and genetic regulatory networks, the specific molecular design for grain quality improvement will be the future direction of rice genetic breeding program of Jiangsu Province.水稻(Oryza sativa L.)是保障我国粮食安全和农业可持续发展的主粮作物,江苏是我国重要的水稻种植区。经过40多年的发展,江苏水稻产量和品质性状研究都取得了重要进展。稻米品质性状组成复杂,涉及生产、加工、销售和消费多方面。本文对江苏省水稻几个主要品质性状的遗传研究历程进行了概括,重点对水稻外观品质、蒸煮食味品质和营养品质的遗传调控研究进行了总结。文章介绍了稻米品质性状的经典遗传规律和分子遗传特点,综述了各个品质性状遗传调控相关的重要功能基因。相关研究成果凸显了江苏水稻品质遗传改良基础研究在国内外的重要地位。特别指出,随着水稻功能基因组学的发展和品质性状遗传调控网络的明晰,未来针对特定或复合品质性状的分子设计育种是江苏水稻品质遗传改良研究中要重点推进的方向。.

Cytogenetics was established based on the "Chromosome theory of inheritance", proposed by Boveri and Sutton and evidenced by Morgan's lab in early stage of the 2020世纪初“遗传的染色体学说”的提出和证明标志着细胞遗传学交叉学科建立,伴随相关学科的发展,20世纪60年代末期细胞遗传学又与分子遗传学相结合,建立发展了分子细胞遗传学交叉学科。分子细胞遗传学以DNA分子原位杂交技术为核心,不断拓展应用领域,为生命科学研究提供了直观、高效的技术手段。原位杂交技术与基因组、细胞生物学等技术结合,被广泛应用于人类、动物、植物的起源、进化、驯化等基础研究和远缘杂交、染色体工程等应用研究。通过形象地展示DNA、RNA、蛋白质在细胞中的实际位置,揭示DNA序列之间的实际位置和顺序、亲缘物种间的进化关系和结构重排、基因组拼接序列的质量、转录水平RNA和翻译水平蛋白质的位置和数量变化等。江苏省遗传学会会员单位南京农业大学、扬州大学、南京林业大学、江苏师范大学、徐淮地区农科院等自20世纪中期开展细胞遗传学理论技术研究,伴随学科发展不断创新,建立了较完善的分子细胞遗传技术体系,并成功应用于开展植物系统进化、远缘杂交、染色体工程、基因组学等研究,取得了一批研究成果。本文将主要综述江苏省在该领域取得的重要进展,并展望未来发展方向。.

X-linked adrenoleukodystrophy (X-ALD) is the most frequent type of inherited demyelinating peroxisomal disease caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1) gene. The rate of early recognition and genetic diagnosis of X-ALD remains low due to its variable clinical manifestations. The present study summarized the clinical features Chinese X-ALD patients and performed a follow-up study to further precisely characterize this disease. A total of 10 patients diagnosed with X-ALD between 1994 and 2016 at Shandong Provincial Hospital Affiliated to Shandong University (Jinan, China) were included in the present study. Through reviewing their medical records and performing telephone follow-ups, the clinical features, biochemical laboratory data, brain images, treatments and long-term outcomes were retrospectively summarized. Mutation analysis of the ABCD1 gene was performed in certain patients. Most of the patients (8/10) had the childhood cerebral form of X-ALD. One patient presented with the olivo-ponto-cerebellar form, the rarest form of X-ALD. In all patients, brain magnetic resonance images revealed abnormalities with typical T2-weighted hyperintensity. Analysis of very long chain fatty acid revealed high plasma levels of hexacosanoic acid in all patients. Increased adrenocorticotropic hormone, decreased cortisol and neurophysiological manifestations were also observed. Three different mutations of the ABCD1 gene were identified in the 3 patients subjected to genotyping. During the follow-ups, most patients took neurotrophic drugs and received hydrocortisone replacement when required. One patient received a hematopoietic stem cell transplantation, but died 1 year following the transplantation. Chronic myelopathy and peripheral neuropathy progressed with time, gradually leading to a vegetative state or paralysis within several years of clinical symptom onset. In conclusion, male patients with adrenocortical insufficiency should be further investigated for X-ALD. Early detection is critical to prevent the progression of X-ALD with mutation analysis of ABCD1 the most accurate method to confirm diagnosis.

In the present study, in order to systematically dissect the genetic mechanism of rice (Oryza sativa L.) tilling for the super rice ideotype and the model system of branching development, two ethyl methane sulfonate-induced rice reduced-culm-number (rcn) mutants from the progeny of Nippobare (O. sativa ssp. japonica), namely rcn8 and rcn9, were used. Their maximum tillers were both less than 4. In addition, rcn9 had another major feature of rust-spotted leaves. Allelic tests between these two mutants and seven other recessive few-tiller mutants revealed that they were previously unknown loci. Genetic analysis showed that the rcn traits were all controlled by a pair of different recessive genes, designated as RCN8 and RCN9, respectively. Two F2 populations derived from crosses between the rcn8 or rcn9 mutants and 93–11 were constructed. Linkage analysis using two rcn F2 mapping populations with published simple sequence repeat markers demonstrated that the RCN8 and RCN9 genes were mapped on the long arm of chromosome 1 (119.6 cM) and the short arm of chromosome 6 (63.6 cM), respectively. The results of the present study are beneficial to map-based cloning and functional analysis of the RCN8 and RCN9 genes. (Managing editor: Li-Hui Zhao)

Leaf plays important roles during plant development for their function of photosynthesis and transpiration. Leaf development includes initiation of leaf primordium and establishment of leaf polarity. Various studies indicate that leaf development is controlled through the interaction of transcription factors, small RNAs and auxin. This review focuses on re-cent advances in studying on leaf development and morphogenesis, and provides information on the regulation network in the process.

To use different types of promoters in transgenic rice research, the 1.1 kb 5'-upstream regulation region of one of the tomato (Solanum tuberosum L.) Rubisco small subunit gene, rbcS3A, was cloned and its sequences were confirmed by comparison with the known sequences in GenBank. The cloned rbcS3A promoter was fused to the 5'-upstream of GUS (beta-glucuronidase) coding region in a binary vector, and introduced into an elite japonica rice variety by Agrogacterium-mediated transformation. The integration of the GUS fusion gene into the genome of transgenic rice was confirmed by both PCR and Southern blot analysis. The results of both histochemical staining and quantitative analysis of GUS activity showed that the expression level of GUS fusion gene was significantly stronger in stem, leaf blade and sheath than in other organs of transgenic rice plants, and showed highest in the stem, which implies that the tomato rbcS3A promoter can make tissue-specific, in particular in the stem, expression of foreign genes in transgenic rice. The results present here also demonstrate that light induction had no effect on the expression of the foreign gene when regulated by the tomato rbcS3A promoter in transgenic rice. Our results show that the cloned tomato rbcS3A promoter might be very useful for the expression of target genes in transgenic rice, with particularly high efficiency in stem tissues.

The mature embryos of a Japonica rice, Guanglingxiangnuo, were used for the study on optimization of Agrobacterium-mediated transformation. Several factors affecting the transformation were investigated and a suitable transformation system was set up. For this transformation system, the HRM medium, based on the MS medium, was suitable for inducing callus from rice mature embryos. The suitable time span of initial culture in this medium was 7-8 days before co-culturing with Agrobacterium and suitable medium for selection was CC medium. Using this transformation system, the Metr gene was introduced into Guanglingxiangnuo, and many transgenic plants were obtained. Most of these transgenic rice plants were confirmed by PCR technique and basta resistance, indicating the T-DNA had been integrated into the genome of transgenic rice plants.

To use different types of promoters in transgenic rice research, the 5'-upstream regulation region of rice Rubisco small subunit gene (rbcS) was cloned from a Chinese cultivar Wuyunjing 8, and its sequences were confirmed by comparison with the known genome sequences of both japonica and indica rice. The cloned rbcS promoter was fused to the 5'-upstream of GUS (beta-glucuronidase) coding region in a binary vector, and introduced into rice by Agrogacterium-mediated transformation. The integration of the rbcS-GUS fusion gene in transgenic rice was confirmed by PCR analysis. The results of both histochemical staining and quantitative analysis of GUS activity showed that the expression level of GUS fusion gene was significantly stronger in leaf blade and sheath than in other organs of transgenic rice plants, and the GUS activity was restricted to the mesophyll cells of leaf tissue, which showed that the rice rbcS promoter could control not only the tissue- but also the cell-specific expression of foreign genes in transgenic rice. The present results also demonstrated that light induction had a significant effect on the enhancement of transgene's expression when regulated by the rice rbcS promoter in transgenic rice. Our results showed that the rice rbcS promoter might be very useful for the expression of target genes in transgenic rice, with particularly high efficiency in leaf tissues.

The rice dwarf variety Aitaiyin3 is derived from a semidwarf cultivar Taiyin1. Genetic analysis indicated that the dwarf phenotype in Aitaiyin3 is involved in two recessive loci. Using bulk analysis with SSR markers, the two loci were located on the chromosome 1 and chromosome 4, respectively. Moreover, the allelism test showed that the locus on the chromosome 1 is allelic to the semidwarf gene sd1, while the other one is a new locus, here was named as sdt2. Further molecular mapping showed that sd1 was linked with SSR markers in the order of RM297-RM302-RM212-OSR3-sd1 with genetic distances of 4.7 cM, 0 cM, 0.8 cM and 0 cM, respectively. The linkage relationship of sdt2 with five SSR markers was SSR332-RM1305-sdt2-RM5633-RM307-RM401 with genetic distances of 11.6 cM, 3.8 cM, 0.4 cM, 0 cM and 0.4 cM, respectively.

Iron deficiency is the most widespread micronutrient deficiency world-wild, and is estimated to affect about 30% of the world population. To increase the iron content of rice in Chinese, the 764 bp cDNA of ferritin gene was cloned from soybean (Phaseolus limensis), and constructed between the 1 353 bp rice glutelin GluB-1 promoter and NOS terminator in a binary vector pCAMIBA1301. The constructed pYF1067 vector was introduced into Agrobacterium strain EHA105, and used for transformation of the primary callus derived from immature embryos of a high-yielding rice ( Oryza sativa L. ssp. japonica) variety Wuxiangjin 9. Under the selection on hygromycin-containing medium, seventeen independent transgenic rice lines, total more than 80 transgenic plants, were finally regenerated, and most of these transgenic rice plants grew normally. PCR and Southern blot analysis of total DNA from primary transformants confirmed that one to three copies of the transgenes integrated into the genome of most of the transgenic plants, and they could be stably transmitted into the progeny of the transgenic rice. Northern blot analysis showed that the ferritin gene could specifically express in the endosperm of transgenic rice with high level, while no or low expression in leaves. The expression level varied among different independent transgenic rice plants. There was a significant effect of the high-expression of ferritin on the increased iron content in transgenic rice, the iron content in the milling rice of transgenic rice was up to 64% higher than that of the untransformed wild-type plant, whereas no significant alteration of the zinc level occurred between these two type rice plants.

Appearance of rice grain represents a major character of rice quality in many rice-producing areas of the world, especially in hybrid rice production in China. In this study, we conducted a molecular marker-based genetic analysis of the traits that are determinants of the appearance quality of rice grains, including grain length, grain width and grain shape (measured as grain length to grain width ratio). Two typical indica/japonica varieties Balilla and Nantehao(NTH) were selected to construct Balilla/NTH//Balilla backcross population containing 142 individuals. In the population, grain length, grain width and grain shape all conform to the normal distribution with certain transgressive segregation. It can be deduced that all of three traits were controlled by some quantitative trait loci (QTLs). In order to explore the QTLs effect, number and location, a linkage map consisting of 108 SSR markers based on the backcross population was constructed, and QTLs mapping was carried out for grain length, grain width and grain shape. A QTL, qGL-12, was detected for grain length at the interval RM101-RM270 on chromosome 12, its additive effect was 0.26 mm, and can explain 16.7% genetic variation. As for grain width trait, two QTLs were found, qGW-2 located at RM154-RM211 interval on chromosome 2, and qGW-3 at interval RM257-RM175 on chromosome 3, accounting for 11.5% and 16.6% genetic variation, respectively. The alleles at qGW-2 and qGW-3 from parent Balilla can increase grain width by 0.10 mm and 0.12 mm. For grain shape, 3 QTLs, qLW-2, qLW-6 and qLW-7 were found, located on chromosome 2, 6, and 7, respectively. qLW-2 and qLW-7 had positive effect, and they can explain 12.7% and 18.3% genetic variation, while qLW-6 had negative effect and contributed 11.5% genetic variation to the backcross population. The prospects of application of linkage relationship between SSR marker and QTLs in marker based selection (MAS) in rice breeding, and the improvement of grain shape and rice appearance quality were discussed.

To explore the genes differentiated between typical indica and japonica varieties, two typical indica/japonica varieties, Balilla (japonica) and Nantehao (NTH, indica), were selected to construct genetic populations based on the widely surveying for spikelet and pollen fertility of 90 indica/japonica F1 hybrids, which also were used as the wide compatability testers. In order to analyze the genes (QTLs) related to spikelet and pollen fertility, two reciprocal backcross populations Balilla/NTH//Balilla and Balilla/NTH//NTH were constructed and the spikelet and pollen fertility of each individuals were assessed. In both populations, two traits all appeared distorted normal distribution, but in the first population, they forwarded to low-level fertility type, the later population, forwarded to high-level fertility type relatively. The results indicated that both of male and female gametophytes of Balilla/NTH hybrids were partial sterile. Then we analyzed the SSR marker genotype of each individuals of Balilla/NTH//Balilla population containing 142 individuals, and constructed a SSR linkage map, in which, there were 108 information markers distributing on all 12 chromosomes equably, average marker distance was about 11.9 cM. Therefore the linkage map was qualified for QTL analysis. Two methods were employed to conduct QTLs analysis, i.e., single marker analysis and interval mapping. According to single marker analysis, 17 and 12 markers were found significantly responsible for spikelet and pollen fertility, respectively. And further study by means of MAPMAKER/QTL software, for spikelet fertility trait, two QTLs were detected, qSPTF1 on chromosome 1 and qSPTF6 on chromosome 6, and their additive effect were 13.501 and -16.414, respectively. According to previous studies, qSPTF6 was deduced to be the same locus as S-5. For pollen fertility, qPLLN7 on chromosome 7 and qPLLN9 on chromosome 9 were detected, and their additive effects were -12.003 and -11.012, respectively. Because the QTLs detected cannot explain completely the total variance of mapping population, other genetic factors must be existed to be responsible for spikelet and pollen partial sterility. Hence we let two random markers as putative covariates, and divide the 142 individuals into four groups according to the two marker genotypes, then the average values of spikelet and pollen fertility of each groups were calculated for two-way ANOVA (analysis of variance). The results indicated that there existed strong interaction for both spikelet fertility and pollen fertility. At a significance level of 0.005, there over 61 and 51 pairs loci interactions detected playing an important role in spikelet and pollen sterility expression, respectively. These results indicated that epistasis also was one of major genetic components controlling indica/japonica hybrid sterility.

Rice (Oryza sativa L.) is one of the most important cereal crops in the world. The chromosomes of rice are relatively small in size. With the help of fluorescence in situ hybridization (FISH), several rice DNAs have been localized on rice chromosomes. 45S rDNA and 5S rDNA are encoding sequences for ribosomal RNA synthesis. For detecting the chromosomes related to 45S rDNA and 5S rDNA, the digoxigenin-dUTP labeled probe DNA was probed to the prometaphase chromosomes which were prepared from the root tips harvested from an indica rice variety, Zhongxian 3037. For identification of the chromosomes, slides were stained with Giemsa before FISH. With the improved FISH protocol 45S rDNA was clearly detected on two pairs of chromosomes which are usually found to be attached to nucleolus. The signal size between two pairs of the chromosomes was different. According to the characteristics of the chromosomes, the chromosomes with bigger signal were chromosome 9 and the other pair were chromosome 10. They were also discriminated from arm ratio. The signals of 5S rDNA were relatively small but clear. According to the size and arm ratio of the chromosome with FISH signals, the 5S rDNA was mapped on the short arm of chromosome 11, very close to the centromere region.

The aneuploid with isochromosome or telochromosome is ideal material for exploring the position of centromere in lingkage map. For obtaining these aneuploids in rice, the primary trisomics from triplo-1 to triplo-12 and the aneuploids derived from a triploid of indica rice variety Zhongxian 3037 were carefully investigated. From the offsprings of triplo-10, a primary trisomic of chromosome 10 of the variety, an isotetrasomic "triplo-10-1" was obtained. Cytological investigation revealed that a pair of extra isochromosomes of triplo-10-1 were come from the short arm of chromosome 10. In the offsprings of the isotetrasomic, a secondary trisomic "triplo-10-2", in which the extra- chromosome was an isochromosome derived from the short arm of chromosome 10, was identified. With the isotetrasomic, secondary trisomic, primary trisomic and diploid of variety Zhongxian 3037, different molecular markers were used for exploring the position of the centromere of chromosome 10. Based on the DNA dosage effect, it was verified that the molecular markers G1125, G333 and L169 were located on the short arm, G1084 and other 16 available molecular markers were on the long arm of chromosome 10. So the centromere of chromosome 10 was located somewhere between G1125 and G1084 according to the RFLP linkage map given by Kurata et al[1]. The distance from G1125 to G1084 was about 3.2 cM.