ES2154506B1 - Procedimiento de caracterizacion por una nueva tecnica de clonaje moleculalar (pcr alu-splice) de una secuencia genica del cromosoma 21 humano y nueva secuencia genica dscri de la region critica del sindrome dedown de dicho cromosoma, caracterizada segun el mismo. - Google Patents
Procedimiento de caracterizacion por una nueva tecnica de clonaje moleculalar (pcr alu-splice) de una secuencia genica del cromosoma 21 humano y nueva secuencia genica dscri de la region critica del sindrome dedown de dicho cromosoma, caracterizada segun el mismo.Info
- Publication number
- ES2154506B1 ES2154506B1 ES009501140A ES9501140A ES2154506B1 ES 2154506 B1 ES2154506 B1 ES 2154506B1 ES 009501140 A ES009501140 A ES 009501140A ES 9501140 A ES9501140 A ES 9501140A ES 2154506 B1 ES2154506 B1 ES 2154506B1
- Authority
- ES
- Spain
- Prior art keywords
- new
- genetic sequence
- dscr1
- alu
- pcr
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Expired - Lifetime
Links
- 238000000034 method Methods 0.000 title abstract 2
- 108091028043 Nucleic acid sequence Proteins 0.000 title 2
- 238000012512 characterization method Methods 0.000 title 1
- 238000012411 cloning technique Methods 0.000 title 1
- 210000003917 human chromosome Anatomy 0.000 title 1
- 208000011580 syndromic disease Diseases 0.000 title 1
- 102100027557 Calcipressin-1 Human genes 0.000 abstract 5
- 101000580357 Homo sapiens Calcipressin-1 Proteins 0.000 abstract 5
- 210000004556 brain Anatomy 0.000 abstract 3
- 108090000623 proteins and genes Proteins 0.000 abstract 3
- 241000700159 Rattus Species 0.000 abstract 2
- 102000004169 proteins and genes Human genes 0.000 abstract 2
- 201000010374 Down Syndrome Diseases 0.000 abstract 1
- ONIBWKKTOPOVIA-BYPYZUCNSA-N L-Proline Chemical compound OC(=O)[C@@H]1CCCN1 ONIBWKKTOPOVIA-BYPYZUCNSA-N 0.000 abstract 1
- 208000036626 Mental retardation Diseases 0.000 abstract 1
- ONIBWKKTOPOVIA-UHFFFAOYSA-N Proline Natural products OC(=O)C1CCCN1 ONIBWKKTOPOVIA-UHFFFAOYSA-N 0.000 abstract 1
- 230000005856 abnormality Effects 0.000 abstract 1
- 210000003169 central nervous system Anatomy 0.000 abstract 1
- 208000028831 congenital heart disease Diseases 0.000 abstract 1
- 230000014509 gene expression Effects 0.000 abstract 1
- 108020004999 messenger RNA Proteins 0.000 abstract 1
- 238000010369 molecular cloning Methods 0.000 abstract 1
- 230000002018 overexpression Effects 0.000 abstract 1
- 230000001717 pathogenic effect Effects 0.000 abstract 1
- 230000004850 protein–protein interaction Effects 0.000 abstract 1
- 238000013518 transcription Methods 0.000 abstract 1
- 230000035897 transcription Effects 0.000 abstract 1
- 230000010474 transient expression Effects 0.000 abstract 1
Classifications
-
- 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
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
- A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
Landscapes
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Gastroenterology & Hepatology (AREA)
- Biochemistry (AREA)
- Biophysics (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Medicinal Chemistry (AREA)
- Molecular Biology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Toxicology (AREA)
- Peptides Or Proteins (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
Mediante una nueva técnica de clonaje molecular denominada "PCR Alu-splicing" hemos aislado una nueva secuencia génica, DSCR1, situada en la región 21q22.1-q22.2. DSCR1 presenta una elevada expresión en cerebro y corazón, codificando para una nueva proteína con una región rica en prolinas y con algunas características estructurales típicas de una proteína involucrada en la transcripción y/o en interacciones proteína-proteína. El incremento de la expresión transitoria del mRNA de DSCR1 en cerebros de ratas jóvenes comparado con los cerebros de ratas adultas sugiere un papel importante de DSCR1 durante el desarrollo del sistema nervioso central. La sobreexpresión de DSCR1 puede estar involucrada en anomalías patogénicas de retraso mental y/o defectos cardíacos en pacientes con síndrome de Down.
Priority Applications (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| ES009501140A ES2154506B1 (es) | 1995-06-07 | 1995-06-07 | Procedimiento de caracterizacion por una nueva tecnica de clonaje moleculalar (pcr alu-splice) de una secuencia genica del cromosoma 21 humano y nueva secuencia genica dscri de la region critica del sindrome dedown de dicho cromosoma, caracterizada segun el mismo. |
| US08/665,040 US5869318A (en) | 1995-06-07 | 1996-06-07 | Gene sequence of the Down syndrome critical region of human chromosome 21, identified by a new "Alu-splicing PCR" technique, coding for a proline-rich protein (DSCR1) highly expressed in foetal brain and in heart and method for characterizing it |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| ES009501140A ES2154506B1 (es) | 1995-06-07 | 1995-06-07 | Procedimiento de caracterizacion por una nueva tecnica de clonaje moleculalar (pcr alu-splice) de una secuencia genica del cromosoma 21 humano y nueva secuencia genica dscri de la region critica del sindrome dedown de dicho cromosoma, caracterizada segun el mismo. |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| ES2154506A1 ES2154506A1 (es) | 2001-04-01 |
| ES2154506B1 true ES2154506B1 (es) | 2001-11-16 |
Family
ID=8290665
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES009501140A Expired - Lifetime ES2154506B1 (es) | 1995-06-07 | 1995-06-07 | Procedimiento de caracterizacion por una nueva tecnica de clonaje moleculalar (pcr alu-splice) de una secuencia genica del cromosoma 21 humano y nueva secuencia genica dscri de la region critica del sindrome dedown de dicho cromosoma, caracterizada segun el mismo. |
Country Status (2)
| Country | Link |
|---|---|
| US (1) | US5869318A (es) |
| ES (1) | ES2154506B1 (es) |
Families Citing this family (7)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP0963436A1 (en) * | 1996-09-19 | 1999-12-15 | Cedars-Sinai Medical Center | Nucleic acid encoding congenital heart disease protein and products related thereto |
| US7396905B1 (en) | 1999-05-21 | 2008-07-08 | Mckeon Frank | Calcipressins: endogenous inhibitors of calcineurin, uses and reagents related thereto |
| US7629308B2 (en) * | 2000-07-07 | 2009-12-08 | Board Of Regents, The University Of Texas System | Methods relating to muscle selective calcineurin interacting protein (MCIP) |
| US6524819B1 (en) * | 2000-07-11 | 2003-02-25 | Incyte Genomics, Inc. | Down syndrome critical region 1-like proteins |
| US20030045679A1 (en) * | 2001-07-13 | 2003-03-06 | Crawford Dana R. | Calcineurin modulators |
| EP1989326A4 (en) | 2006-01-17 | 2009-09-30 | Health Research Inc | HETERO DUPLEX TRACKING TEST |
| EP2759307B1 (en) | 2006-03-29 | 2016-11-09 | Merial Limited | Vaccine against Streptococci |
Family Cites Families (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| FR2690460A1 (fr) * | 1992-04-24 | 1993-10-29 | Inst Nat Sante Rech Med | Préparation et utilisation de sondes d'acide nucléique spécifiques du chromosome 21. |
-
1995
- 1995-06-07 ES ES009501140A patent/ES2154506B1/es not_active Expired - Lifetime
-
1996
- 1996-06-07 US US08/665,040 patent/US5869318A/en not_active Expired - Fee Related
Also Published As
| Publication number | Publication date |
|---|---|
| ES2154506A1 (es) | 2001-04-01 |
| US5869318A (en) | 1999-02-09 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EC2A | Search report published |
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