Genetic polymorphisms of the CST2 locus coding for cystatin SA.
A new genetic polymorphism of cystatin SA has been identified in human submandibular-sublingual saliva by means of basic gel electrophoresis and immunoblotting with anti-cystatin S. Two proteins, SA1 and SA2, are given by two alleles of CST2, viz., CST2*1 and CST*2. Inheritance is controlled by two codominant alleles at an autosomal locus. This hypothesis is supported by studies of 16 families 32 children. Gene frequencies for CST2*1 and CST2*2 are 0.935 and 0.065, respectively (n = 341). Eighteen amino acids determined among 20 N-terminal residues of cystatin SA2 are identical with the sequence encoded by CST2. Three forms of cystatin S (mono-phosphorylated cystatin S, di-phosphorylated cystatin S, and non-phosphorylated cystatin S) are present in the 341 saliva samples tested.
Department of Forensic Odontology, Tokyo Dental College, Chiba, Japan.
M
M
Shintani
K
K
Minaguchi
S
S
Isemura
E
E
Saitoh
K
K
Sanada
T
T
Semba
D000595:Amino Acid Sequence; D015891:Cystatins / Q000235:genetics*; D015180:Electrophoresis, Gel, Two-Dimensional; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012463:Saliva / Q000737:chemistry; D055333:Salivary Cystatins; D016415:Sequence Alignment
C525172:CST2 protein, human; C525173:CST4 protein, human; D015891:Cystatins; D055333:Salivary Cystatins