Functional genomics of Down syndrome: A multidisciplinary approach

M. Dierssen, E. Martí, C. Pucharcós, V. Fotaki, X. Altafaj, K. Casas, A. Solans, M. L. Arbonés, C. Fillat, Xavier P. Estivill

Research output: Contribution to journalReview article

10 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)131-148
Number of pages18
JournalJournal of Neural Transmission, Supplement
Issue number61
Publication statusPublished - 2001
Externally publishedYes


ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry

Cite this

Dierssen, M., Martí, E., Pucharcós, C., Fotaki, V., Altafaj, X., Casas, K., Solans, A., Arbonés, M. L., Fillat, C., & Estivill, X. P. (2001). Functional genomics of Down syndrome: A multidisciplinary approach. Journal of Neural Transmission, Supplement, (61), 131-148.