Comparative physical maps of the human and mouse Meckel syndrome critical regions

被引:6
作者
Hentges, KE
Kyttälä, M
Justice, MJ
Peltonen, L
机构
[1] Natl Publ Hlth Inst, Biomedicum, Dept Mol Med, FIN-00251 Helsinki, Finland
[2] Univ Helsinki, Biomedicum, Dept Med Genet, Helsinki, Finland
[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[4] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA
关键词
D O I
10.1007/s00335-003-2303-y
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Meckel syndrome (MKS-OMIM 24900) is an autosomal recessive disease characterized by cystic kidneys, occipital encephalocele, polydactyly, and fibrotic changes of the liver, typically resulting in postnatal death. A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11. Here we report the comparison of human Chr 17q23 with mouse Chr 11. We have generated physical maps of the human and mouse MKS1 critical regions. Additionally, we have created a transcript map of the MKS1 critical region in both species. By comparing these physical maps, we observe a high degree of similarity in gene order in the human and mouse Meckel syndrome critical regions. We have also examined the expression patterns of genes in the MKS1 region to assess their potential as MKS1 candidates. Finally, we have analyzed genes present in the other Meckel syndrome critical regions, MKS2 and MKS3, to determine whether any of the candidate genes for the three MKS loci have similar gene functions or are members of a common biological pathway.
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页码:252 / 264
页数:13
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