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A novel large deletion(exons 12,13)and a missense mutation(p.G46R)in the PAH in a Japanese patient with phenylketonuria

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World Journal of Pediatrics 2015年第2期11卷 181-184页

作者： Yoshihiro Maruo Masafumi Suzaki Katsuyuki Matsui Yu Mimura Asami Mori Haruo Shintaku Yoshihiro Takeuchi Department of Pediatrics Shiga University of Medical ScienceTsukinowaSetaOtsuShiga 520-2192Japan Central Research Laboratory Shiga University of Medical ScienceTsukinowaSetaOtsuShiga 520-2192Japan Department of Pediatrics Osaka City University Graduate School of MedicineOsakaJapan

Background:Phenylketonuria(PKU)is caused by a defect in phenylalanine hydroxylase(PAH).More than 500 mutations have been reported for the gene encoding ***,approximately l%-5%of these include large deletions and large duplications that cannot be detected by conventional ***:In this report we tried to fully characterize a PAH-deficient *** patient was a 2-year-old Japanese boy who was diagnosed with classical PKU at the time of neonatal screening,which was confirmed by the tetrahydrobiopterin-loading ***-related direct sequencing and multiplex ligation-dependent probe amplification(MLPA)were used to analyze of the PAH of the ***:Using PCR-related direct sequencing method,we could detect only a heterozygous novel missense mutation:p.136G>C(p.G46R).A second mutation was detected by *** patient was heterozygous for a novel large deletion of exons 12 and 13:c.1200-?_1359+?del(EX12_13del).For genetic counseling,an accurate genetic diagnosis is often ***:Through a combination of MLPA and conventional methods,the success rate of PAH mutation identification can be close to 100%.

关键词： large deletion multiplex ligation-dependent probe amplification phenylalanine hydroxylase phenylketonuria

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A rice mutant displaying a heterochronically elongated internode carries a 100 kb deletion

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Journal of Genetics and Genomics 2011年第3期38卷 123-128页

作者： Mika Hayashi-Tsugane Masahiko Maekawa Qian Qian Hirokazu Kobayashi Shigeru Iida Kazuo Tsugane National Institute for Basic Biology Okazaki 444-8585 Japan Graduate School of Nutritional and Environmental Sciences University of Shizuoka Shizuoka 422-8526 Japan Institute of Plant Science and Resources Okayama University Kurashiki 710-0046 Japan Global Center of Excellence Program University of Shizuoka Shizuoka 422-8526 Japan Graduate School of Pharmaceutical Sciences University of Shizuoka Shizuoka 422-8526 Japan The Graduate University for Advanced Studies (Sokendai) Okazaki 444-8585 Japan

We have isolated a recessive rice mutant, designated as indeterminate growth （ing）, which displays creeping and apparent heterochronic phenotypes in the vegetative period with lanky and winding culms. Rough mapping and subsequent molecular characterization revealed that the ing mutant carries a large deletion, which corresponds to a 103 kb region in the Nipponbare genome, containing nine annotated genes on chromosome 3. Of these annotated genes, the SLR1 gene encoding a DELLA protein is the only one that is well characterized in its function, and its null mutation, which is caused by a single base deletion in the middle of the intronless SLR1 gene, confers a slender phenotype that bears close resemblance to the ing mutant phenotype. The primary cause of the ing mutant phenotype is the deletion of the SLR1 gene, and the ing mutant appears to be the first characterized mutant having the entire SLR1 sequence deleted. Our results also suggest that the deleted region of 103 kb does not contain an indispensable gene, whose dysfunction must result in a lethal phenotype.

关键词： Heterochronic Elongated intemode large deletion Map-based cloning Rice genome

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Gene diagnosis and targeted breeding for blast-resistant Kongyu 131without changing regional adaptability

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Journal of Genetics and Genomics 2018年第10期45卷 539-547页

作者： Xiangchun Zhou Gonghao Jiang Longwei Yang Lei Qiu Ping He Chunxiao Nong Yunyue Wang Yuqing He Yongzhong Xing National Key Laboratory of Crop Genetic Improvement Huazhong Agricultural UniversityWuhan 430070China College of Life Science Heilongjiang UniversityHarbin 150080China Hubei Collaborative Innovation Center for Grain Industry Jingzhou 434025China Key Laboratory of Plant Pathology Yunnan Agricultural UniversityKunming 650224China

The fungus Magnaporthe oryzae threatens the rice production of Kongyu 131 (KY131),a leading japonica variety in Northeast *** this study,two rice lines,KP1 and KP2-Hd1,were obtained by introgressing the blast resistance genes Pi1 and Pi2 into KY131,***,both lines headed later than ***60K SNP array analysis showed that Hd1 closely linked to Pi2 was introgressed into KP2-Hd1,and the linkage drag of Hd1 was broken by *** the other hand,no known flowering genes were introgressed into *** diagnosis by resequencing six flowering genes showed that KP1 carried functional Hd16 and Ghd8 *** to its suppression role in heading under long-day conditions,Ghd8 was chosen as the target for gene editing to disrupt its *** sgRNAs targeting different sites within Ghd8 were utilized to induce large-deletion mutations,which were easy to detect via agarose gel *** the ghd8-mutated KP1 lines were resistant to rice blast disease and headed earlier than the control KP1,even than KY131,under natural long-day conditions,which ensures its growth in Northeast *** study confirmed that a combination of gene diagnosis and targeted gene editing is a highly efficient way to quickly eliminate undesired traits in a breeding line.

关键词： Blast resistance Heading date Gene diagnosis large deletion Gene editing

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