ES2154506A1 - 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 cscr1 de la region critica del sindrome de down 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 cscr1 de la region critica del sindrome de down de dicho cromosoma, caracterizada segun el mismo.

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Publication number
ES2154506A1
ES2154506A1 ES009501140A ES9501140A ES2154506A1 ES 2154506 A1 ES2154506 A1 ES 2154506A1 ES 009501140 A ES009501140 A ES 009501140A ES 9501140 A ES9501140 A ES 9501140A ES 2154506 A1 ES2154506 A1 ES 2154506A1
Authority
ES
Spain
Prior art keywords
dscr1
new
heart
alu
proline
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.)
Granted
Application number
ES009501140A
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English (en)
Other versions
ES2154506B1 (es
Inventor
Xavier Estivill
Juan-Jose Fuentes
Melanie Pritchard
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Individual
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Individual
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Publication date
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Priority to ES009501140A priority Critical patent/ES2154506B1/es
Priority to US08/665,040 priority patent/US5869318A/en
Publication of ES2154506A1 publication Critical patent/ES2154506A1/es
Application granted granted Critical
Publication of ES2154506B1 publication Critical patent/ES2154506B1/es
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

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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.
ES009501140A 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. Expired - Lifetime ES2154506B1 (es)

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 true ES2154506A1 (es) 2001-04-01
ES2154506B1 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)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1998012323A1 (en) * 1996-09-19 1998-03-26 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
AU2002320460A1 (en) * 2001-07-13 2003-01-29 Clf Medical Technology Acceleration Program, Inc Calcineurin modulators
CA2637600A1 (en) 2006-01-17 2007-07-26 Health Research, Inc. Heteroduplex tracking assay
EP2019687B1 (en) 2006-03-29 2014-03-19 Merial Limited Vaccine against streptococci

Citations (1)

* Cited by examiner, † Cited by third party
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.

Patent Citations (1)

* Cited by examiner, † Cited by third party
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.

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
BICKNELL, D.C. et al. "The human chromosome content in human x rodent somatic cell hybrids analyzed by a screening technique using Alu PCR", GENOMICS, 1991, Vol. 10, paginas 186-192, todo el documento. *
LENGAUER, C. et al. "Painting of human chromosomes with probes generated from hybrid cell lines by PCR with Alu and L1 primers", HUM. GENET., 1990, Vol. 86, paginas 1-6, todo el documento. *
NELSON, D.L. et al. "Alu polymerase chain reaction: A method for rapid isolation of human-specific sequences from complex DNA sources", PROC. NATL. ACAD. SCI. USA, 1989, Vol. 86, paginas 6686-6690, todo el documento. *
NEVE, R.L. et al. "Human chromosome 21-encoded cDNA clones", GENE, 1986, Vol. 49, paginas 361-369, todo el documento. *

Also Published As

Publication number Publication date
US5869318A (en) 1999-02-09
ES2154506B1 (es) 2001-11-16

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