Comparative mapping of two adjacent regions of MMU19 with their human counterpart on HSA11q13

Fernandes, Marie; Lespinasse, Françoise; Rotomondo, F.; Poirier, Camille; Guénet, Jean-Louis; Gaudray, Patrick; Carle, Georges F.

doi:10.1159/000015038

Cited by 3 publications

(2 citation statements)

References 44 publications

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“…We have undertaken a comparative mapping study of a syntenic area of the genome that has been conserved through evolution between human 11q13 and the pericentromeric region of mouse chromosome 19. 4,8,21 Many genes involved in inherited human pathologies and localized on 11q13 have an homologous gene present on proximal MMU19 region and vice versa. 20 This gene conservation between mice and humans has been very helpful in designing new probes to refine the physical map.…”

Section: Introductionmentioning

confidence: 99%

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

Scimeca

Franchi

Trojani

et al. 2000

Bone

193

135

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Osteosclerosis (oc) is an autosomal recessive lethal mutation that impairs bone resorption by osteoclasts, and induces a general increase of bone density in affected mice. Genetic mapping of the oc mutation was used as a backbone in a positional cloning approach in the pericentromeric region of mouse chromosome 19. Perfect cosegregation of the osteopetrotic phenotype with polymorphic markers enabled the construction of a sequence-ready bacterial artificial chromosome (BAC) contig of this region. Genomic sequencing of a 200-kb area revealed the presence of the mouse homologue to the human gene encoding the osteoclast-specific 116-kDa subunit of the vacuolar proton pump. This gene was located recently on human 11q13, a genomic region conserved with proximal mouse chromosome 19. Sequencing of the 5' end of the gene in oc/oc mice showed a 1.6-kb deletion, including the translation start site, which impairs genuine transcription of this subunit. The inactivation of this osteoclast-specific vacuolar proton ATPase subunit could be responsible for the lack of this enzyme in the apical membranes of osteoclast cells in oc/oc mice, thereby preventing the resorption function of these cells, which leads to the osteopetrotic phenotype.

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Section: Introductionmentioning

confidence: 99%

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

Scimeca

Franchi

Trojani

et al. 2000

Bone

193

135

View full text Add to dashboard Cite

show abstract

“…This pathology was mapped to 11q13 [Heaney et al, 1998], a syntenic group that has been conserved in evolution with the pericentromeric region of mouse chromosome 19 [Szepetowski and Gaudray, 1994;Courseaux et al, 1997;Fernandes et al, 1998]. In 1966, an autosomal lethal recessive trait arose spontaneously at the Jackson Laboratory in the C57BL/6J-bf strain, and was characterized by an osteopetrotic phenotype.…”

Section: Introductionmentioning

confidence: 99%

Novel mutations in theTCIRG1gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

et al. 2003

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Fifty percent of the infantile malignant osteopetrosis (IMO) cases reported in the literature present mutations in the TCIRG1 gene encoding the 116-kDa osteoclast specific subunit of the vacuolar proton ATPase (ATP6I). In this study, we identified four novel mutations in a series of six IMO patients. All of these mutations correspond to single nucleotide changes and affect splice acceptor or donor sites, resulting in aberrant transcription products. We report also a missense mutation, G405R, previously described in several Costa Rican patients. This independent finding suggests that the highly conserved residue at amino acid 405 plays a critical role in the a3 subunit function. Finally, the results of this study were used to provide a prenatal diagnosis to one of the families.

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Mouse Chromosome 19 and Distal Rat Chromosome 1: a Chromosome Segment Conserved in Evolution

et al. 2004

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Through a combination of radiation hybrid mapping and studies by FISH and zoo-FISH we have made a comparative investigation of the distal portion of rat chromosome 1 (RNO1) and the entire mouse chromosome 19 (MMU19). It was found that homologous segments of RNO1 and MMU19 are similar in banding morphology and in length as determined by several different methods, and that the gene order of the 46 genes studied appears to be conserved across the homologous segments in the two species. High-resolution zoo-FISH techniques showed that MMU19 probes highlight only a continuous segment on RNO1 (1q43-qter), with no detectable signals on other rat chromosomes. We conclude that these data suggest the evolutionary conservation of a chromosomal segment from a common rodent ancestor. This segment now constitutes the entire MMU19 and a large segment distally on RNO1q in the mouse and rat, respectively.

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Comparative mapping of two adjacent regions of MMU19 with their human counterpart on HSA11q13

Cited by 3 publications

References 44 publications

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

Novel mutations in theTCIRG1gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

Mouse Chromosome 19 and Distal Rat Chromosome 1: a Chromosome Segment Conserved in Evolution

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