The DOI matches its Crossref record.
DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system
Abstract
Down syndrome (DS), a major cause of mental retardation, is characterized by subtle abnormalities of cortical neuroanatomy, neurochemistry and function. Recent work has shown that chromosome band 21q22 is critical for many of the neurological phenotypes of DS. A gene, DSCAM (Down syndrome cell adhesion molecule), has now been isolated from chromosome band 21q22.2-22.3. Homology searches indicate that the putative DSCAM protein is a novel member of the immunoglobulin (Ig) superfamily that represents a new class of neural cell adhesion molecules. The sequence of cDNAs indicates alternative splicing and predicts two protein isoforms, both containing 10 Ig-C2 domains, with nine at the N-terminus and the tenth located between domains 4 and 5 of the following array of six fibronectin III domains, with or without the following transmembrane and intracellular domains. Northern analyses reveals the transcripts of 9.7, 8.5 and 7.6 kb primarily in brain. These transcripts are differentially expressed in substructures of the adult brain. Tissue in situ hybridization analyses of a mouse homolog of the DSCAM gene revealed broad expression within the nervous system at the time of neuronal differentiation in the neural tube, cortex, hippocampus, medulla, spinal cord and most neural crest-derived tissues. Given its location on chromosome 21, its specific expression in the central nervous system and neural crest, and the homologies to molecules involved in neural migration, differentiation, and synaptic function, we propose that DSCAM is involved in neural differentiation and contributes to the central and peripheral nervous system defects in DS.
Overview
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
Verification
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.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cited by
An Aneuploid Mouse Strain Carrying Human Chromosome 21 with down Syndrome Phenotypes.
O'Doherty, A., Ruf, S., Mulligan, C., Hildreth, V., Errington, M. L., Cooke, S., Sesay, A., Modino, S., Vanes, L., Hernandez, D., et al. (2005) · Science · doi:10.1126/science.1114535 · Cited by 434
Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813248106 · Cited by 399
Synaptopathies: synaptic dysfunction in neurological disorders – A review from students to students
Lepeta, K., Lourenco, M. V., Schweitzer, B. C., Martino Adami, P. V., Banerjee, P., Catuara‐Solarz, S., de La Fuente Revenga, M., Guillem, A. M., Haidar, M., Ijomone, O. M., et al. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13713 · Cited by 386
Recurrent de novo mutations implicate novel genes underlying simplex autism risk
O'Roak, B. J., Stessman, H. A., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., et al. (2014) · Nature Communications · doi:10.1038/ncomms6595 · Cited by 336
Kahlem, P., Sultan, M., Herwig, R., Steinfath, M., Balzereit, D., Eppens, B., Saran, N. G., Pletcher, M. T., South, S. T., Stetten, G., et al. (2004) · Genome Research · doi:10.1101/gr.1951304 · Cited by 249
Tang, X.-Y., Xu, L., Wang, J., Hong, Y., Wang, Y., Zhu, Q., Wang, D., Zhang, X.-Y., Liu, C.-Y., Fang, K.-H., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci135763 · Cited by 143
A gene expression map of human chromosome 21 orthologues in the mouse
initiative, T. H. E. M., *Group 1:, Gitton, Y., Dahmane, N., Baik, S., Ruiz i Altaba, A., *Group 2:, Neidhardt, L., Scholze, M., Herrmann, B. G., et al. (2002) · Nature · doi:10.1038/nature01270 · Cited by 127
Genetic dissection of the down syndrome critical region
Jiang, X., Liu, C., Yu, T., Zhang, L., Meng, K., Xing, Z., Belichenko, P. V., Kleschevnikov, A. M., Pao, A., Peresie, J., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv364 · Cited by 88
Logue, M. W., Smith, A. K., Baldwin, C., Wolf, E. J., Guffanti, G., Ratanatharathorn, A., Stone, A., Schichman, S. A., Humphries, D., Binder, E. B., et al. (2015) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2015.03.016 · Cited by 80
DSCAM Contributes to Dendrite Arborization and Spine Formation in the Developing Cerebral Cortex
Maynard, K. R., & Stein, E. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.2811-12.2012 · Cited by 67
Jongsri, P., Rojsitthisak, P., Wangsomboondee, T., & Seraypheap, K. (2017) · Scientia Horticulturae · doi:10.1016/j.scienta.2017.06.011 · Cited by 66
Nikolić, M. (2008) · Molecular Neurobiology · doi:10.1007/s12035-008-8032-1 · Cited by 56
All Creatures Great and Small: New Approaches for Understanding Down Syndrome Genetics
Moyer, A. J., Gardiner, K., & Reeves, R. H. (2021) · Trends in Genetics · doi:10.1016/j.tig.2020.09.017 · Cited by 49
Metadata
- Authors
- Yamakawa, K.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1998-02-01
- Volume
- 7
- Issue
- 2
- Pages
- 227-237
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2096524612
- Cited by
- 281
- References
- 0
- FWCI
- 10.20
- Type
- journal article
- Language
- en
- Open access
- closed
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
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
