ArticleGenetics2001
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.
Article in Genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- A dominant missense variant within LMBR1 related to equine polydactyly.Communications biology · 2024Article
- Cold exposure impacts DNA methylation patterns in cattle sperm.Frontiers in genetics · 2024Article
- Extracellular vesicles from the inflammatory microenvironment regulate the osteogenic and odontogenic differentiation of periodontal ligament stem cells by miR-758-5p/LMBR1/BMP2/4 axis.Journal of translational medicine · 2022Article
- Redundant functions of I-BAR family members, IRSp53 and IRTKS, are essential for embryonic development.Scientific reports · 2017Article
- Congenital deformity of the distal extremities in three dogs.Open veterinary journal · 2016Article
- Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.Molecular cytogenetics · 2016Article
- Advances in the Molecular Genetics of Non-syndromic Syndactyly.Current genomics · 2015Article
- Genome-wide linkage analysis and association study identifies loci for polydactyly in chickens.G3 (Bethesda, Md.) · 2014Article
- Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.Clinical dysmorphology · 2012Review
- Identification of an alternative splicing isoform of chicken Lmbr1.Molecular biology reports · 2011Article
- Pleiotropic patterning response to activation of Shh signaling in the limb apical ectodermal ridge.Developmental dynamics : an official publication of the American Association of Anatomists · 2011Article
- Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.European journal of human genetics : EJHG · 2009Article
- Article
- Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1.Genetics · 2008Article
- An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.The Journal of clinical investigation · 2005Article
- Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The major locus for dominant preaxial polydactyly in humans has been mapped to 7q36. In mice the dominant Hemimelic extra toes (Hx) and Hammertoe (Hm) mutations map to a homologous chromosomal region and cause similar limb defects. The Lmbr1 gene is entirely within the small critical intervals recently defined for both the mouse and human mutations and is misexpressed at the exact time that the mouse Hx phenotype becomes apparent during limb development. This result suggests that Lmbr1 may underlie preaxial polydactyly in both mice and humans. We have used deletion chromosomes to demonstrate that the dominant mouse and human limb defects arise from gain-of-function mutations and not from haploinsufficiency. Furthermore, we created a loss-of-function mutation in the mouse Lmbr1 gene that causes digit number reduction (oligodactyly) on its own and in trans to a deletion chromosome. The loss of digits that we observed in mice with reduced Lmbr1 activity is in contrast to the gain of digits observed in Hx mice and human polydactyly patients. Our results suggest that the Lmbr1 gene is required for limb formation and that reciprocal changes in levels of Lmbr1 activity can lead to either increases or decreases in the number of digits in the vertebrate limb.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.