CHS Gene Mutations Associated with Chediak-Higashi Syndrome type 1

Map of CHS Gene Mutations Associated with CHS

This figure shows both of the CHS gene transcripts that result from alternative splicing (black line). The light blue represents the common coding sequences for both transcripts. The light blue and dark blue represents the short transcipt (6 kb). The light blue and the red represents the large transcript (13 kb) which codes for 3801 amino acids. Stripped regions represent the 3' untranslated region (UTR) of the transcipt. The green represents HEAT repeats. The maroon represents stathmin-like sequences. The orange box represents a conserved domain between beige (HPS) and CHS. The blue ovals are likely WD40 repeats and the black are significant WD40 repeats. Missense mutations are on the top and nonsense, frameshift and splice site mutations are on the bottom.

GeneBank accession for short transcript (U84744)

GenBank accession for long transcript (U67615)

References on gene structure:

Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genetics 14:307-311, 1996. [Link to article (PubMed)]

Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fisher, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore, S. F. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Human Molecular Genetics 6:1091-1098, 1997. [Link to article (PubMed)]

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Last changed July 15, 1999.