Molecular exploration of human chromosome 21

  

 Linkage mapping of chromosome 21

 Physical mapping of chromosome 21

 Cloning and characterization of human chromosome 21 genes :
  • Exon Trapping
  • ATP5O
  • SIM2
  • NCAM2
  • PKNOX1
  • HES1
  • PWP2
  • ISTN
  • TIAM
  • PEP19
  • WHT1
  • LS
  • HRMT1L1
  • RED1
  • EZH2
  • TMPRSS2
  • C21ORF1
  • C21ORF2
  • TPTE
  • BACH1
  • AIRE
  • PDE9A
  • G3PP
  • CLIC3
  • Other genes (GABPA, TIAM1, CAF1P60, HLCS, U2AF35, PCNT, MNB, KIAA136, KIAA179, TCP10)




Monogenic disorders of chromosome 21

  

 Progressive myoclonus epilepsy type 1

 Autoimmune Polyglandular Disease type 1

 Recessive hereditary deafness DFNB8

 Recessive hereditary deafness DFNB10

 Holoprocencephaly 1

 Knobloch syndrome




Trisomy 21 / Down syndrome

  

 Parental and meiotic origin of non-disjunction

 Partial trisomy 21

 Differential gene expression in trisomy 21

 Transgenic mice for Sim2

 Differential gene expression in trisomy Ts65Dn mouse model of Down syndrome




Linkage mapping

  

 Monogenic Disorders


 Polygenic/Complex traits

  • Schizophrenia



Molecular pathophysiology of monogenic disorders

  

 Peutz-Jeghers syndrome

 Kartagener syndrome(Primary Ciliary Dyskinesia)

 Afibrinogenemia

 Combined factor 5 factor 8 deficiency




Hemophilia A

  

 Molecular pathophysiology

 Mouse model

 Gene therapy





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