C to A single nucleotide polymorphism in intron 18 of the human MST1R (RON) gene that maps at 3p21.3.
The MST1R (RON) gene, that maps at 3p21.3, encodes a protein tyrosine kinase receptor comprised of an extra-cellular domain that contains the ligand binding pocket and an intracellular region where the kinase domain is located. It controls cell survival and motility programs related to invasive growth. With the single strand conformation polymorphism (SSCP) method, a C to A nucleotide polymorphism (SNP) was found in intron 18 of the gene. The SNP has a frequency of 0.28 among African-American, 0.25 among Caucasian CEPH and 0.09 among Asian healthy individuals. During these studies, an alternatively spliced cDNA of MST1R, lacking exon 19, was also found that may result from this change.
Angeloni
Debora
D
Laboratory of Immunobiology, National Cancer Institute at Frederick, Frederick, MD 21702-1201, USA. angeloni@sssup.it
Duh
Fuh-Mei
FM
Moody
Michele
M
Dean
Michael
M
Zabarovsky
Eugene R
ER
Sentchenko
Vera
V
Braga
Eleonora
E
Lerman
Michael I
MI
D017398:Alternative Splicing; D045744:Cell Line, Tumor; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
C080835:RON protein; D020794:Receptor Protein-Tyrosine Kinases