Entry - 168710 - PAROTID PROLINE-RICH SALIVARY PROTEIN Pc - OMIM
 
168710

PAROTID PROLINE-RICH SALIVARY PROTEIN Pc


Cytogenetic location: 12p13.2     Genomic coordinates (GRCh38): 12:10,000,001-12,600,000


TEXT

Karn et al. (1985) identified a new polymorphism, Pc, in human salivary proteins. Two proteins, Pc1 and Pc2, determined by alleles Pc(1) and Pc(2), showed autosomal codominant inheritance. The 2 alleles showed gene frequencies of 0.670 and 0.330 in blacks and 0.461 and 0.539 in whites. Segregation analysis did not suggest the presence of a null allele in either population. Azen et al. (1985) assigned the proline-rich protein (PRP) genes to chromosome 12 by means of a DNA probe derived from one of these and human-mouse somatic cell hybrids. There was complete concordance between this marker and an RFLP in the 12q14-q22 region. By in situ hybridization, Mamula et al. (1985) regionalized the salivary protein gene complex to 12p13.2. Although Pc is clearly a proline-rich salivary protein coded by the gene cluster on 12p, its relation to the 6 gene loci identified there is not known (Azen, 1990).


REFERENCES

  1. Azen, E. A. Personal Communication. Madison, Wis. 3/27/1990.

  2. Azen, E. A., Goodman, P. A., Lalley, P. A. Human salivary proline-rich protein genes on chromosome 12. Am. J. Hum. Genet. 37: 418-424, 1985. [PubMed: 2984928, related citations]

  3. Karn, R. C., Goodman, P. A., Yu, P.-L. Description of a genetic polymorphism of a human proline-rich salivary protein, Pc, and its relationship to other proteins in the salivary protein complex (SPC). Biochem. Genet. 23: 37-51, 1985. [PubMed: 3922350, related citations] [Full Text]

  4. Mamula, P. W., Heerema, N. A., Palmer, C. G., Lyons, K. M., Karn, R. C. Localization of the human salivary protein complex (SPC) to chromosome band 12p13.2. Cytogenet. Cell Genet. 39: 279-284, 1985. [PubMed: 4053693, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
supermim : 3/16/1992
supermim : 5/8/1990
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 10/18/1986

168710

PAROTID PROLINE-RICH SALIVARY PROTEIN Pc


Cytogenetic location: 12p13.2     Genomic coordinates (GRCh38): 12:10,000,001-12,600,000


TEXT

Karn et al. (1985) identified a new polymorphism, Pc, in human salivary proteins. Two proteins, Pc1 and Pc2, determined by alleles Pc(1) and Pc(2), showed autosomal codominant inheritance. The 2 alleles showed gene frequencies of 0.670 and 0.330 in blacks and 0.461 and 0.539 in whites. Segregation analysis did not suggest the presence of a null allele in either population. Azen et al. (1985) assigned the proline-rich protein (PRP) genes to chromosome 12 by means of a DNA probe derived from one of these and human-mouse somatic cell hybrids. There was complete concordance between this marker and an RFLP in the 12q14-q22 region. By in situ hybridization, Mamula et al. (1985) regionalized the salivary protein gene complex to 12p13.2. Although Pc is clearly a proline-rich salivary protein coded by the gene cluster on 12p, its relation to the 6 gene loci identified there is not known (Azen, 1990).


REFERENCES

  1. Azen, E. A. Personal Communication. Madison, Wis. 3/27/1990.

  2. Azen, E. A., Goodman, P. A., Lalley, P. A. Human salivary proline-rich protein genes on chromosome 12. Am. J. Hum. Genet. 37: 418-424, 1985. [PubMed: 2984928]

  3. Karn, R. C., Goodman, P. A., Yu, P.-L. Description of a genetic polymorphism of a human proline-rich salivary protein, Pc, and its relationship to other proteins in the salivary protein complex (SPC). Biochem. Genet. 23: 37-51, 1985. [PubMed: 3922350] [Full Text: https://doi.org/10.1007/BF00499111]

  4. Mamula, P. W., Heerema, N. A., Palmer, C. G., Lyons, K. M., Karn, R. C. Localization of the human salivary protein complex (SPC) to chromosome band 12p13.2. Cytogenet. Cell Genet. 39: 279-284, 1985. [PubMed: 4053693] [Full Text: https://doi.org/10.1159/000132158]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
supermim : 3/16/1992
supermim : 5/8/1990
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 10/18/1986