International Mammalian Genome Society

The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

D17 Comparative Sequence Analysis of the Region from RSVP to F8 on Mouse Chromosome X and its Syntenic Region in Human Xq28

Galgoczy, P., Reichwald, K., Goremykin, V., Geist S., Rosenthal, A., Platzer, M. Institute of Molecular Biotechnology, Beutenbergstrasse 11, D-07745 Jena, Germany

Xq28, being one of the most gene-dense regions of the human genome, is located at the distal end of the long arm of the X-chromosome. Several human disease genes have been mapped to this region. Comparative sequence analysis of syntenic regions will provide further information about organization and evolution of this chromosomal band. To this end we and colleagues of an international consortium ( are currently mapping and sequencing a region on the murine X-chromosome syntenic to parts of human Xq28. This region extends from Ids and Dmd and spans about 6 Mb. Presently, sequencing of more than 2 Mb is completed, including the markers DXHXS1104 - DXHXS52 (see abstract by Bate et al.), Mtm, Gabre and Ald - Rsvp (see abstract by Platzer et al.).

We present, as part of the project, the current status of mapping and sequencing of the region extending from Rsvp to F8 on mouse X. Coding sequences located in the syntenic region on human Xq28 were used to identify murine ESTs in the database. With EST-derived probes we established PAC contigs covering the regions Rsvp - G6pd (0.3 Mb) and Mpp1-F8 (0.3 Mb). Sequences from the ends of the contigs are used for completing the map between G6pd and Mpp1.

Sequencing of the murine genomic DNA revealed chromosomal localization and genomic organization of more than 10 genes including Rsvp, Flna, Emd, Dnl1l, Qm, Gdi, Gdx, G6pd, Mpp1 and F8. Furthermore, the gene NFkB Essential Modulator (Nemo) was identified distal to G6pd. Nemo is a component of the IkB Kinase Complex that phosphorylates IkB, which is necessary for the activation of NFkB.

In addition, we present a detailed comparative analysis of X-chromosomal colour vision loci in both species. While in mice, which are dichromatic, there seems to be only one colour pigment gene (Rsvp), in human Xq28 at least four pigment genes are present: one red gene is followed by 3-5 copies of the green gene.


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