ArticleProceedings of the National Academy of Sciences of the United States of America2005
Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 33 citations in OpenAlex.
- A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.Italian journal of pediatrics · 2018Review
- A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management.Clinical case reports · 2018Article
- Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.PLoS genetics · 2013Article
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- High resolution melt analysis (HRMA); a viable alternative to agarose gel electrophoresis for mouse genotyping.PloS one · 2012Article
- High-throughput analysis of mouse embryos by magnetic resonance imaging.Cold Spring Harbor protocols · 2012Article
- Mouse models and type 2 diabetes: translational opportunities.Mammalian genome : official journal of the International Mammalian Genome Society · 2011Review
- Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.Human molecular genetics · 2009Article
- Role of the transcription factor sox4 in insulin secretion and impaired glucose tolerance.Diabetes · 2008Article
- Episcopic 3D Imaging Methods: Tools for Researching Gene Function.Current genomics · 2008Article
- VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.Genes & development · 2008Article
- microMRI-HREM pipeline for high-throughput, high-resolution phenotyping of murine embryos.Journal of anatomy · 2007Article
- Probabilistic analysis of recessive mutagenesis screen strategies.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Article
- Schizophrenia in an adult with 6p25 deletion syndrome.American journal of medical genetics. Part A · 2006Article
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Authors and funding
24 authors at 3 institutions in 1 country.
Funding
Abstract
Monosomy of the human chromosome 6p terminal region results in a variety of congenital malformations that include brain, craniofacial, and organogenesis abnormalities. To examine the genetic basis of these phenotypes, we have carried out an unbiased functional analysis of the syntenic region of the mouse genome (proximal Mmu13). A genetic screen for recessive mutations in this region recovered thirteen lines with phenotypes relevant to a variety of clinical conditions. These include two loci that cause holoprosencephaly, two that underlie anophthalmia, one of which also contributes to other craniofacial abnormalities such as microcephaly, agnathia, and palatogenesis defects, and one locus responsible for developmental heart and kidney defects. Analysis of heterozygous carriers of these mutations shows that a high proportion of these loci manifest with behavioral activity and sensorimotor deficits in the heterozygous state. This finding argues for the systematic, reciprocal phenotypic assessment of dominant and recessive mouse mutants. In addition to providing a resource of single gene mutants that model 6p-associated disorders, the work reveals unsuspected genetic complexity at this region. In particular, many of the phenotypes associated with 6p deletions can be elicited by mutation in one of a number of genes. This finding implies that phenotypes associated with contiguous gene deletion syndromes can result not only from dosage sensitivity of one gene in the region but also from the combined effect of monosomy for multiple genes that function within the same biological process.
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