Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis
Open accessAbstract
The RCS rat presents an autosomal recessive retinal pigment epithelium dystrophy characterized by the outer segments of photoreceptors being phagocytosis-deficient. A systematic genetic study allowed us to restrict the interval containing the rdy locus to that between the markers D3Mit13 and D3Rat256. We report the chromosomal localization of the rat c-mer gene in the cytogenetic bands 3q35-36, based on genetic analysis and radiation hybrid mapping. Using a systematic biocomputing analysis, we identified two strong related candidate genes encoding protein tyrosine kinase receptors of the AXL subfamily. The comparison of their expression patterns in human and mice tissues suggested that the c-mer gene was the best gene to screen for mutations. RCS rdy- and RCS rdy+ cDNAs were sequenced. The RCS rdy- cDNAs carried a significant deletion in the 5' part of the coding sequence of the c-mer gene resulting in a shortened aberrant transcript encoding a 20 amino acid peptide. The c-mer gene contains characteristic motifs of neural cell adhesion. A ligand of the c-mer receptor, Gas6, exhibits antiapoptotic properties.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The RCS rat has a genomic deletion resulting in a truncated MERTK protein and lack of MERTK signaling.
“before the identification of a genomic deletion in these animals that resulted in a truncated MERTK protein and lack of MERTK signaling (D’Cruz et al., 2000; Nandrot et al., 2000).”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Nandrot et al., 2000
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
The citation lists haven’t been fetched yet
References 62 · Cited by 139
Research works printed but not linked: 1
- Prieto, A. L., Weber, J. L., Tracy, S., Heeb, M. J., & Lai, C. (1999) Gas6, a ligand for the receptor protein-tyrosine kinase Tyro-3, is widely expressed in the central nervous system. Brain Res. 816(2), 646 -661.
- Authors
- Nandrot, E., Dufour, E. M., Provost, A. C., Péquignot, M. O., Bonnel, S., Gogat, K., Marchant, D., Rouillac, C., Sépulchre de Condé, B., Bihoreau, M.-T., Shaver, C., Dufier, J.-L., Marsac, C., Lathrop, M., Menasche, M., & Abitbol, M. M.
- Affiliations
- Université Paris Descartes (FR)
- Centre for Human Genetics (GB)
- Genoscope (FR)
- Corresponding author
- Abitbol, Marc M
- ORCID
- Venue
- Neurobiology of Disease
- Publisher
- Elsevier BV
- Published
- 2000-12
- Volume
- 7
- Issue
- 6
- Pages
- 586-599
- ISSN
- 0969-9961 (ISSN-L)
- OpenAlex
- W1975436727
- Cited by
- 139
- References
- 62
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 5 · 2023: 5 · 2022: 8 · 2021: 8 · 2020: 7 · 2019: 5 · 2018: 8 · 2017: 5 · 2016: 2 · 2015: 5 · 2014: 8 · 2013: 1 · 2012: 4
- FWCI
- 2.53
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Neurobiology of Disease (publishedVersion, other-oa)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Fondation de l'Avenir pour la Recherche Médicale Appliquée
- Institut National de la Santé et de la Recherche Médicale
- Fondation de France
- Retina France
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Phagocytosis and Immune Regulation
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- RCS rat, homozygous deletion, Gas6, cell adhesion, apoptosis, chromosomal localization, radiation hybrid mapping, candidate gene identification
- MeSH terms
- c-Mer Tyrosine Kinase, Amino Acid Sequence, Animals, Base Sequence, Cell Adhesion, Chromosome Mapping, Crosses, Genetic, Electroretinography, Fluorescein Angiography, Genes, Recessive, Genotype, Homozygote, Inbreeding, Molecular Sequence Data, Organ Specificity, Phenotype, Protein-Tyrosine Kinases, Proto-Oncogene Proteins, Rats, Inbred BN, Rats, Mutant Strains, Retinal Diseases, RNA, Messenger, Apoptosis, Sequence Deletion, Sequence Analysis, DNA, Receptor Protein-Tyrosine Kinases, Rats
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
