JP7728772B2 - 遺伝子発現の誘導性選択的スプライシング調節のための組成物および方法 - Google Patents

遺伝子発現の誘導性選択的スプライシング調節のための組成物および方法

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Publication number
JP7728772B2
JP7728772B2 JP2022548941A JP2022548941A JP7728772B2 JP 7728772 B2 JP7728772 B2 JP 7728772B2 JP 2022548941 A JP2022548941 A JP 2022548941A JP 2022548941 A JP2022548941 A JP 2022548941A JP 7728772 B2 JP7728772 B2 JP 7728772B2
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exon
sequence
nucleic acid
pyridazin
lmi070
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JP2023514242A (ja
JP2023514242A5 (https=
Inventor
ビバリー エル． デービッドソン
アレハンドロ マス モンティス
アミール エイ． ハンドリー
ポール ティー． ラナム
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Childrens Hospital of Philadelphia CHOP
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/62—DNA sequences coding for fusion proteins
    • C12N15/625—DNA sequences coding for fusion proteins containing a sequence coding for a signal sequence
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/0075—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the delivery route, e.g. oral, subcutaneous
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/005—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from viruses
    • C07K14/01—DNA viruses
    • C07K14/015—Parvoviridae, e.g. feline panleukopenia virus, human parvovirus
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/475—Growth factors; Growth regulators
    • C07K14/505—Erythropoietin [EPO]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/02—Fusion polypeptide containing a localisation/targetting motif containing a signal sequence
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/60—Fusion polypeptide containing spectroscopic/fluorescent detection, e.g. green fluorescent protein [GFP]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/33—Alteration of splicing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2840/00—Vectors comprising a special translation-regulating system
    • C12N2840/44—Vectors comprising a special translation-regulating system being a specific part of the splice mechanism, e.g. donor, acceptor

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Epidemiology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Virology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Toxicology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Adhesives Or Adhesive Processes (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Plural Heterocyclic Compounds (AREA)
  • Nitrogen And Oxygen Or Sulfur-Condensed Heterocyclic Ring Systems (AREA)
  • Medicinal Preparation (AREA)
JP2022548941A 2020-02-12 2021-02-12 遺伝子発現の誘導性選択的スプライシング調節のための組成物および方法 Active JP7728772B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202062975400P 2020-02-12 2020-02-12
US62/975,400 2020-02-12
PCT/US2021/017950 WO2021163556A1 (en) 2020-02-12 2021-02-12 Compositions and methods for inducible alternative splicing regulation of gene expression

Publications (3)

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JP2023514242A JP2023514242A (ja) 2023-04-05
JP2023514242A5 JP2023514242A5 (https=) 2024-02-21
JP7728772B2 true JP7728772B2 (ja) 2025-08-25

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JP2022548941A Active JP7728772B2 (ja) 2020-02-12 2021-02-12 遺伝子発現の誘導性選択的スプライシング調節のための組成物および方法

Country Status (9)

Country Link
US (1) US20230340498A1 (https=)
EP (1) EP4103717A4 (https=)
JP (1) JP7728772B2 (https=)
KR (1) KR20220146501A (https=)
CN (1) CN115605596A (https=)
AU (1) AU2021218807A1 (https=)
CA (1) CA3167836A1 (https=)
IL (1) IL295542A (https=)
WO (1) WO2021163556A1 (https=)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20210355509A1 (en) * 2018-08-07 2021-11-18 The Children's Hospital Of Philadelphia Alternative splicing regulation of gene expression and therapeutic methods
US20250129390A1 (en) * 2021-09-30 2025-04-24 Osaka University Method for producing cell having dna deletion specific to one of homologous chromosomes
EP4419692A4 (en) * 2021-10-22 2025-10-01 Fred Hutchinson Cancer Center SYNTHETIC INTRONS FOR TARGETED GENE EXPRESSION
US20250303000A1 (en) 2022-05-18 2025-10-02 The Children's Hospital Of Philadelphia Compositions and methods for inducible alternative splicing regulation of gene expression
WO2024060205A1 (zh) * 2022-09-23 2024-03-28 北京基驭医疗科技有限公司 包含基于小分子药物的可变剪接调节元件的核酸分子
EP4627095A2 (en) * 2022-11-28 2025-10-08 Siren Biotechnology, Inc. Gene therapy vectors for treatment of cancer
WO2024173699A2 (en) * 2023-02-16 2024-08-22 Mammoth Biosciences, Inc. Compositions for the treatment of spinal muscular atrophy
WO2024186892A2 (en) * 2023-03-06 2024-09-12 The Children's Hospital Of Philadelphia Regulated control of rna interference by alternative splicing
EP4701634A1 (en) 2023-04-28 2026-03-04 Kriya Therapeutics, Inc. Riboswitches for regulating gene expression and therapeutic methods of using the same
WO2024251925A1 (en) 2023-06-09 2024-12-12 F. Hoffmann-La Roche Ag Inducible gene expression system

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2009151546A2 (en) 2008-05-27 2009-12-17 Ptc Therapeutics, Inc. Methods for treating spinal muscular atrophy
JP2015508075A (ja) 2012-02-10 2015-03-16 ピーティーシー セラピューティクス， インコーポレイテッド 脊髄性筋萎縮症を治療するための化合物
WO2020033473A1 (en) 2018-08-07 2020-02-13 The Children's Hospital Of Philadelphia Alternative splicing regulation of gene expression and therapeutic methods
WO2021014428A1 (en) 2019-07-25 2021-01-28 Novartis Ag Regulatable expression systems

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7838657B2 (en) * 2004-12-03 2010-11-23 University Of Massachusetts Spinal muscular atrophy (SMA) treatment via targeting of SMN2 splice site inhibitory sequences
GB2443186A (en) * 2006-10-25 2008-04-30 Oxitec Ltd Expression system for mediating alternative splicing
ES2771862T3 (es) * 2013-10-28 2020-07-07 Invectys Una vacuna de ADN que codifica telomerasa
CN108603230A (zh) * 2015-10-09 2018-09-28 南安普敦大学 基因表达的调节与蛋白质表达失调的筛选
EA201991309A1 (ru) * 2016-11-28 2019-11-29 Способы модуляции сплайсинга рнк
WO2022204471A1 (en) * 2021-03-26 2022-09-29 Ptc Therapeutics Inc. Regulation of transgene expression using a small molecule inducible splicing switch

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2009151546A2 (en) 2008-05-27 2009-12-17 Ptc Therapeutics, Inc. Methods for treating spinal muscular atrophy
JP2015508075A (ja) 2012-02-10 2015-03-16 ピーティーシー セラピューティクス， インコーポレイテッド 脊髄性筋萎縮症を治療するための化合物
WO2020033473A1 (en) 2018-08-07 2020-02-13 The Children's Hospital Of Philadelphia Alternative splicing regulation of gene expression and therapeutic methods
WO2021014428A1 (en) 2019-07-25 2021-01-28 Novartis Ag Regulatable expression systems

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
NATURE CHEMICAL BIOLOGY，2015年，Vol.11, No.7，pp.511-517

Also Published As

Publication number Publication date
KR20220146501A (ko) 2022-11-01
CN115605596A (zh) 2023-01-13
WO2021163556A1 (en) 2021-08-19
US20230340498A1 (en) 2023-10-26
JP2023514242A (ja) 2023-04-05
EP4103717A1 (en) 2022-12-21
AU2021218807A1 (en) 2022-09-15
EP4103717A4 (en) 2024-02-28
IL295542A (en) 2022-10-01
CA3167836A1 (en) 2021-08-19

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