title: Comparative physical maps of the human and mouse Meckel syndrome critical regions.
abstract: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Kathryn E
authors.initials: KE
authors.lastname: Hentges
authors.forename: Mira
authors.initials: M
authors.lastname: Kyttälä
authors.forename: Monica J
authors.initials: MJ
authors.lastname: Justice
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D015152:Blotting, Northern; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D004677:Encephalocele / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D051379:Mice; D020161:Physical Chromosome Mapping; D017689:Polydactyly / Q000235:genetics*; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013577:Syndrome
chemical_list: D012333:RNA, Messenger