14 results about "EDARADD" patented technology

The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The application belongs to the field of plant genetic engineering, and discloses a key gene for positively regulating salt stress and oxidation stress tolerance of rice OsHPCA1 . The gene (accession number: Os05g40770) encodes a receptor protein specifically sensing hydrogen peroxide, which is classified into the leucine repeat receptor-like kinase (LRR-RLKs) family, which is the largest subfamily in the receptor-like kinase (RLKs) family. OsHPCA1 In response to salt and oxidation stress signals, the rice salt and oxidation stress tolerance is positively regulated. OsHPCA1 The overexpression rice strain shows strong salt tolerance; and OsHPCA1 the knockout strain oshpca1 is more sensitive to salt stress. OsHPCA1 The leucine repeat receptor protein kinase OsHPCA1 encoded by the gene can positively regulate the activity of catalase C (CatC) in the rice body, enhance the H2O2 clearance efficiency under salt stress, and thus improve the salt tolerance of the rice. When OsHPCA1 overexpressed, the activity of CatC in the overexpression strain OsHPCA1 is significantly increased, the H2O2 clearance capacity is enhanced, and the salt tolerance and oxidation stress tolerance of the rice are improved.

The application relates to the technical field of molecular markers, and discloses an SNP site associated with turbot albinism, a molecular marker and application, wherein the SNP mutation site is a base T / A mutation at the 50th bp of a coding region of a gene KIT proto-oncogene, receptor tyrosine kinase a (kita); the SNP mutation site is a base A / T mutation at the 137th bp of a coding region of a gene cytochrome P450 3A40-like (LOC118311907); the SNP mutation site is a base G / T mutation at the 371st bp of a coding region of a gene kit ligand a (kitlga); and the SNP mutation site is a base G / A mutation at the 581st bp of a coding region of a gene frizzled class receptor 10 (fzd10). The SNP site associated with turbot albinism, the molecular marker and the application provide a precise screening method for turbot breeding. In the breeding process, the SNP molecular markers are used to determine whether the genotype is albinism or normal, to establish an excellent family with normal body color, to reduce the incidence of abnormal body color, and to improve the overall quality and economic benefits of turbot culture.

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.

The application belongs to the field of plant genetic engineering, and particularly relates to application of a receptor kinase OsCRK17 gene in regulating salt tolerance of rice. An OsCRK17 gene capable of regulating salt tolerance of rice is screened. The nucleotide sequence of the gene is shown as SEQ ID NO:1; the protein sequence encoded by the gene is shown as SEQ ID NO:2. By using Agrobacterium-mediated transformation, a pU1301-OsCRK17 overexpression strain and a CRISPR / Cas9-OsCRK17 gene editing strain are obtained. It is found by salt stress identification of the transgenic materials that the salt tolerance of the OsCRK17 gene overexpression strain is enhanced, indicating that OsCRK17 is a positive regulation factor for regulating salt tolerance of rice, plays a positive regulation role in response of rice to salt stress, and overexpression of the OsCRK17 gene can significantly improve the salt tolerance of rice.

This invention relates to mutants of the maize dwarfing gene ZmAN1, their identification primer pairs, kits, detection methods, and applications, belonging to the technical field of molecular genetics. The ZmAN1 mutants are obtained by single-base mutations in the ZmAN1 gene, with the gene number Zm00001d032961, and the mutants being an1-25, an1-65, an1-76, an1-75, an1-14, and an1-41. This invention also provides primer pairs for identifying ZmAN1 mutants and their applications. This invention, through EMS mutagenesis technology, creates and screens a series of different amino acid mutation sites distributed within the coding region of the ZmAN1 gene, significantly enriching the germplasm resource bank for maize dwarfing breeding, effectively compensating for the lack of allelic variation in this gene, and providing a foundation for the discovery of new high-quality dwarf materials.

The application provides application of PWWP3B in preparation of a diagnostic product and a therapeutic drug for testicular premature failure or oligoasthenospermia, and finds that the occurrence of testicular premature failure or oligoasthenospermia is related to abnormal PWWP3B gene or abnormal expression level of a PWWP3B gene coding protein. Therefore, testicular premature failure or oligoasthenospermia can be definitely diagnosed by detecting the PWWP3B gene sequence or the PWWP3B protein expression level. Meanwhile, it is found that a mutation pathogenic gene related to testicular premature failure or oligoasthenospermia contains 7 mutation sites, and based on the above 7 mutation points, a corresponding AAV carrier is constructed for treatment, and the effectiveness of a gene therapy drug for a specific genetic mutation is confirmed.

This invention provides a SNP site, identification kit, identification method, and application for the Jk(a+w) blood type, which triggers immune hemolytic transfusion reactions. The SNP site is the c.613C>T mutation at position 613, starting from the start codon of the SLC14A1 gene coding region. In the proband, the c.613C>T mutation was detected in one allele, while the other allele carried other known inactivating mutations. The allele carrying the c.613C>T mutation resulted in reduced expression of the Kidd protein in the proband's erythrocytes; the other allele, carrying other inactivating mutations, did not express the Kidd protein. The combined effect of these two mutated alleles resulted in the Jk(a+w) phenotype. This provides a genetic variation basis for the establishment of rare blood type banks and the assurance of transfusion compatibility.

The application belongs to the technical field of biology, and specifically discloses a new mutation of ANKRD11 related to KBG syndrome and application thereof. The ANKRD11 gene mutation is any one of the following: a nucleic acid, the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 6281 to No. 6282 are deleted; a polypeptide, compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2, has a p.L2095Gfs*6 mutation. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutation in screening of a KBG syndrome risk population. In the disclosure, the pathogenic gene spectrum of KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

This invention relates to a method based on argB A method for constructing a high-arginine-producing genetically engineered strain using mutants, and the application of this genetically engineered strain in the microbial fermentation production of arginine. The genetically engineered strain was obtained by performing the following gene editing on its genome, starting with Corynebacterium glutamicum ATCC 13032; this invention first involves knocking out the gene encoding the arginine biosynthesis repressor protein. argR and last Relieve transcriptional repression; knock out the gene encoding glutamate kinase. proB Blocking the competitive pathway for the synthesis of the byproduct L-proline; knocking out global nitrogen metabolism regulators. amtR To relieve nitrogen metabolism restriction and enhance nitrogen source supply; to knock out the gene encoding the mechanosensitive channel protein. yggB By altering cell membrane permeability and reducing the leakage of byproducts (such as glutamate), it indirectly promotes arginine accumulation; based on the knockout of the original proB, ldh Replace with Ptac- argB *(T94S, I158V, R273K) strains were constructed to reduce lactic acid byproducts while resisting feedback inhibition; finally, the L-arginine exporter gene was overexpressed via plasmid. lysE By combining the above modification strategies, a genetically engineered strain ARG6-Ptac-, which produces high levels of arginine, was constructed. argB * / pXMJ19- lysE This engineered strain exhibits excellent L-arginine production capacity in both shake flask and fermenter scales (10.3 g / L in shake flask and 105.2 g / L in fed-batch fermentation), and its genetic traits are stable, making it suitable for industrial production.

This invention relates to the field of molecular genetics, specifically to a ZmKS3 gene mutant, primer pair composition, kit, detection method, and application. The ZmKS3 gene mutant is obtained by a single-base mutation in the ZmKS3 gene, with the gene number Zm00001d002349. The ZmKS3 gene mutants are ks3-32, ks3-42, ks3-68, ks3-79, ks3-78, or ks3-80. This invention, through EMS mutagenesis technology, creates and screens a series of different amino acid mutation sites distributed within the coding region of the ZmKS3 gene, significantly enriching the germplasm resource bank for maize dwarfing breeding, effectively compensating for the lack of allelic variation in this gene, and providing a foundation for the discovery of new high-quality dwarf materials.

This invention provides a CYP450 enzyme protein, its encoding gene, and its applications that can catalyze the formation of new andrographolide aglycones, belonging to the field of biology. This invention utilizes bioinformatics analysis and differential expression analysis of transcriptome data from different tissue sites to identify the gene ApCYP71BE50, which catalyzes the formation of new andrographolide aglycones from (4R,5S,9R,10S)-labda-8(17),13-dien-15,19-diol. It also verifies that the CYP450 enzyme protein encoded by the ApCYP71BE50 gene can continuously oxidize the C16 position of (4R,5S,9R,10S)-labda-8(17),13-dien-15,19-diol to form new andrographolide aglycones. This invention provides an important gene element for the biosynthesis of andrographolide and also provides a key gene locus for the molecular design breeding of andrographis paniculata.

The application belongs to the technical field of genetic engineering, and relates to a wheat stripe rust resistance protein YR26, a coding gene thereof and application. The wheat stripe rust resistance protein YR26 provided by the application has an amino acid sequence as shown in SEQ ID NO:1, and is encoded by a gene YR26 The coding sequence of the gene YR26 Is shown in SEQ ID NO:2. The sequence of the gene YR26 Is isolated for the first time, and the disease resistance function thereof is verified by various molecular biology means such as mutants, gene editing, transgenesis, gene silencing and the like.