Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12
- La Jolla Cancer Research Foundation, CA (United States)
Chick contactin/F11 (also known as F3 in mouse) is a neuronal cell adhesion molecule of the immunoglobulin (Ig) gene family that is implicated in playing a role in the formation of axon connections in the developing nervous system. In human brain, contactin was first identified by amino terminal and peptide sequencing of the lentil-lectin-binding glycoprotein Gp135. The authors now report the isolation and characterization of cDNA clones encoding human contactin. Human contactin is composed of six C2 Ig-domains and four fibronectin type III (FNIII) repeats and is anchored to the membrane via a glycosyl phosphatidylinositol moiety, as shown by PI-PLC treatment of cells transfected with contactin cDNA and metabolic labeling with [{sup 3}H]-ethanolamine. At the amino acid level, h-contactin is 78% identical to chick contactin/F11 and 94% to mouse F3. Independent cDNAs encoding two putative contactin 1 cDNA encodes a protein with the amino-terminal sequence of purified Gp135, while the putative h-contactin 2 gene has a deletion of 33 nucleotides that predicts a protein with a shortened amino terminus. Northern analysis with a probe common for both isoforms detects one mRNA species of approximately 6.6 kb in adult human brain. Fluorescence in situ hybridization maps the gene for human contactin to human chromosome 12q11-q12. The h-contactin gene locus is thus in close proximity to homeobox 3, integrin subunit {alpha}5, several proto-oncogene genes, a chromosomal breakpoint associated with various tumors, and the gene locus for Stickler syndrome. The cloning of human contactin now permits the study of its role in disorder of the human nervous system. 56 refs., 6 figs., 1 tab.
- OSTI ID:
- 250051
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 21; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
Similar Records
Mapping of the first preferentially expressed cDNA in human fetal cochlea to human 14q11.2-12 and to a region of homologous synteny on mouse chromosome 12
Cloning and mapping of the mouse {alpha}7-neuronal nicotinic acetylcholine receptor
The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134461
Cloning and mapping of the mouse {alpha}7-neuronal nicotinic acetylcholine receptor
Journal Article
·
Sun Mar 19 23:00:00 EST 1995
· Genomics
·
OSTI ID:219905
The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome
Journal Article
·
Mon Jul 01 00:00:00 EDT 1996
· Genomics
·
OSTI ID:466028