title: Functional genomics of Down syndrome: a multidisciplinary approach.
abstract: The availability of the DNA sequence of human chromosome 21 (HSA21) is a landmark contribution that will have an immediate impact on the study of the role of specific genes to Down syndrome (DS). Trisomy 21, full or partial, is a major cause of mental retardation and other phenotypic abnormalities, collectively known as Down syndrome (DS), a disorder affecting 1 in 700 births. The identification of genes on HSA21 and the elucidation of the function of the proteins encoded by these genes have been a major challenge for the human genome project and for research in DS. Over 100 of the estimated 300-500 genes of HSA21 have been identified, but the function of most remains largely unknown. It is believed that the overexpression of an unknown number of HSA21 genes is directly or indirectly responsible for the mental retardation and the other clinical features of DS. For this reason, HSA21 genes that are expressed in tissues affected in DS patients are of special interest.
authors.affiliation: Down Syndrome Research Group, Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Dierssen
authors.forename: E
authors.initials: E
authors.lastname: Martí
authors.forename: C
authors.initials: C
authors.lastname: Pucharcós
authors.forename: V
authors.initials: V
authors.lastname: Fotaki
authors.forename: X
authors.initials: X
authors.lastname: Altafaj
authors.forename: K
authors.initials: K
authors.lastname: Casas
authors.forename: A
authors.initials: A
authors.lastname: Solans
authors.forename: M L
authors.initials: ML
authors.lastname: Arbonés
authors.forename: C
authors.initials: C
authors.lastname: Fillat
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D053829:Amyloid Precursor Protein Secretases; D016282:Aspartic Acid Endopeptidases / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D004268:DNA-Binding Proteins; D004314:Down Syndrome / Q000235:genetics*; D010450:Endopeptidases; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009124:Muscle Proteins / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D000097603:Dyrk Kinases
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D053829:Amyloid Precursor Protein Secretases; D016282:Aspartic Acid Endopeptidases; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D010450:Endopeptidases; D047908:Intracellular Signaling Peptides and Proteins; D009124:Muscle Proteins; D017346:Protein Serine-Threonine Kinases; D011505:Protein-Tyrosine Kinases; D000097603:Dyrk Kinases; C108612:RCAN1 protein, human; C115919:intersectin 1; C509284:BACE2 protein, human; C509280:BACE1 protein, human