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Mammalian Genome

, Volume 11, Issue 3, pp 182–190 | Cite as

Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

  • Kathrin  Reichwald
  • Jens  Thiesen
  • Thomas  Wiehe
  • Joachim  Weitzel
  • Wolf H.  Strätling
  • Petra  Kioschis
  • Annemarie  Poustka
  • André Rosenthal
  • Matthias  Platzer
Article

Abstract.

Comparative sequence analysis facilitates the identification of evolutionarily conserved regions, that is, gene-regulatory elements, which can not be detected by analyzing one species only. Sequencing of a 152-kb region on human Chromosome (Chr) Xq28 and of the synthenic 123 kb on mouse Chr XC identified the MECP2/Mecp2 locus, which is flanked by the gene coding for Interleukin-1 receptor associated kinase (IRAK/Il1rak) and the red opsin gene (RCP/Rsvp). By comparative sequence analysis, we identified a previously unknown, non-coding 5′ exon embedded in a CpG island associated with MECP2/Mecp2. Thus, the MECP2/Mecp2 gene is comprised of four exons instead of three. Furthermore, sequence comparison 3′ to the previously reported polyadenylation signal revealed a highly conserved region of 8.5 kb terminating in an alternative polyadenylation signal. Northern blot analysis verified the existence of two main transcripts of 1.9 kb and ∼10 kb, respectively. Both transcripts exhibit tissue-specific expression patterns and have almost identical short half-lifes. The ∼10-kb transcript corresponds to a giant 3′ UTR contained in the fourth exon of MECP2. The long 3′ UTR and the newly identified first intron of MECP2/Mecp2 are highly conserved in human and mouse. Furthermore, the human MECP2 locus is heterogeneous with respect to its DNA composition. We postulate that it represents a boundary between two H3 isochores that has not been observed previously.

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Copyright information

© Springer-Verlag New York Inc. 2000

Authors and Affiliations

  • Kathrin  Reichwald
    • 1
  • Jens  Thiesen
    • 2
  • Thomas  Wiehe
    • 1
  • Joachim  Weitzel
    • 2
  • Wolf H.  Strätling
    • 2
  • Petra  Kioschis
    • 3
  • Annemarie  Poustka
    • 3
  • André Rosenthal
    • 1
  • Matthias  Platzer
    • 1
  1. 1.Institut für Molekulare Biotechnologie, Abt. Genomanalyse, Beutenbergstr. 11, 07745 Jena, GermanyDE
  2. 2.Universitäts-Krankenhaus Eppendorf, Institute für Medizinische Biochemie und Molekularbiologie, Martinistr. 52, 20246 Hamburg, GermanyDE
  3. 3.DKFZ, Abt. für Molekulare Genomanalyse, Im Neuenheimer Feld 506, 69120 Heidelberg, GermanyDE

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