Entry - *172280 - PHOSPHOGLYCOLATE PHOSPHATASE; PGP - OMIM

 
 
* 172280

PHOSPHOGLYCOLATE PHOSPHATASE; PGP


HGNC Approved Gene Symbol: PGP

Cytogenetic location: 16p13.3     Genomic coordinates (GRCh38): 16:2,211,593-2,214,840 (from NCBI)


▼ TEXT

This enzyme (EC 3.1.3.18) may have an important regulatory influence on oxygen transport in man by indirectly affecting the level of red cell 2,3-diphosphoglycerate. (The spellings 'phosphoglycolate' and 'phosphoglycollate' have been used interchangeably, but the former is preferred.) Barker and Hopkinson (1978) devised a method for detecting PGP isozymes after starch-gel electrophoresis. They are present in all human tissues, with highest activities in skeletal and cardiac muscle. Six different electrophoretic phenotypes were identified. Family studies showed that these are determined by 3 alleles at an autosomal locus. In a sample of Europeans, the frequency of the alleles were PGP(1), 0.826; PGP(2), 0.129; PGP(3), 0.045. The 3-banded isozyme pattern in heterozygotes suggested that the enzyme is dimeric.


▼ Mapping

The phosphoglycolate phosphatase locus was assigned to chromosome 16 by Donald et al. (1979) and by Blankenstein-Wijnen et al. (1979). Family data suggested that PGP is not close to 16qh or alpha-haptoglobin (Povey et al., 1980). The most likely regional assignment was considered to be 16p13 or 16p12, but a site on 16q could not be excluded (Povey et al., 1980). Koeffler et al. (1981) assigned the PGP locus to 16p by mouse-man somatic cell hybridization. Bale et al. (1984) suggested the existence of recombination heterogeneity in the linkage with haptoglobin. Reeders et al. (1986) showed that the PGP locus is, like the alpha-globin locus, close to the adult polycystic kidney disease locus (maximum lod = 8.21, theta = 0.00). PGP versus the 3-prime-HVR (hypervariable region 3-prime to the alpha-globin locus) gave a maximum lod score of 11.61 at theta = 0.00. Thus, PGP, HBA, and APCKD are all close together on 16p. Mulley et al. (1990) assigned the PGP gene to 16p13.3 by electrophoretic detection of enzymes from a human/mouse somatic cell panel, the members of which carried portions of human chromosome 16 with precisely defined breakpoints. Eiberg et al. (1993) reported a suggestion of linkage between manic-depressive illness (125480) and PGP; a maximum lod score of 2.20 at 0% recombination was found in a single large family. A second family was uninformative.


▼ Molecular Genetics

Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

▼ REFERENCES

  1. Amorim, A., Siebert, G., Ritter, H., Kompf, J. Formal genetics of phosphoglycolate phosphate (PGP): investigation on 272 mother-child pairs. Hum. Genet. 53: 419-420, 1980. [PubMed: 6246002, related citations] [Full Text]

  2. Bale, S. J., Chakravarti, A., Ferrell, R. E., Spence, M. A. Possible heterogeneity in the phosphoglycolate phosphatase (PGP)-haptoglobin alpha (HPA) linkage. Am. J. Hum. Genet. 36: 808-814, 1984. [PubMed: 6089552, related citations]

  3. Barker, R. F., Hopkinson, D. A. Genetic polymorphism of human phosphoglycolate phosphatase (PGP). Ann. Hum. Genet. 42: 143-151, 1978. [PubMed: 215071, related citations] [Full Text]

  4. Blake, N. M., Hayes, C. A population genetic study of phosphoglycolate phosphatase. Ann. Hum. Biol. 7: 481-484, 1980. [PubMed: 6263172, related citations] [Full Text]

  5. Blankenstein-Wijnen, L. M. M., Schmieder, G., Grzeschik, K.-H., Pearson, P. L., Westerveld, A., Meera Khan, P. Chromosomal localization of PGP. (Abstract) Cytogenet. Cell Genet. 25: 138 only, 1979.

  6. Brink, W., Baur, M. P., Rittner, C. Population, formal genetics, and linkage relations of the phosphoglycolate phosphatase (PGP)--E.C.3.1.3.18. Hum. Genet. 59: 386-388, 1981. [PubMed: 6277765, related citations] [Full Text]

  7. Donald, L. J., Wang, H. S., Hamerton, J. L. Assignment of the phosphoglycollate phosphatase locus to chromosome 16. (Abstract) Cytogenet. Cell Genet. 25: 147-148, 1979.

  8. Eiberg, H., Ewald, H., Mors, O. Suggestion of linkage between manic-depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p. Clin. Genet. 44: 254-257, 1993. [PubMed: 8313623, related citations] [Full Text]

  9. Golan, R., Ben-Ezzer, J., Szeinberg, A. Phosphoglycolate phosphatase in several population groups in Israel. Hum. Hered. 31: 89-92, 1981. [PubMed: 6262215, related citations] [Full Text]

  10. Henke, J., Schweitzer, H., Sachs, V. Evidence for a 'new' allele at the phosphoglycolate phosphatase locus. Hum. Genet. 70: 86 only, 1985. [PubMed: 2987107, related citations] [Full Text]

  11. Koeffler, H. P., Sparkes, R. S., Stang, H., Mohandas, T. Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16. Proc. Nat. Acad. Sci. 78: 7015-7018, 1981. [PubMed: 6273902, related citations] [Full Text]

  12. Mulley, J. C., Barton, N., Callen, D. F. Localisation of human PGP and HAGH genes to 16p13.3. Cytogenet. Cell Genet. 53: 175-176, 1990. [PubMed: 2164460, related citations] [Full Text]

  13. Povey, S., Jeremiah, S. J., Barker, R. F., Hopkinson, D. A., Robson, E. B., Cook, P. J. L., Solomon, E., Bobrow, M., Carritt, B., Buckton, K. E. Assignment of the human locus determining phosphoglycolate phosphatase (PGP) to chromosome 16. Ann. Hum. Genet. 43: 241-248, 1980. [PubMed: 6244770, related citations] [Full Text]

  14. Reeders, S. T., Breuning, M. H., Corney, G., Jeremiah, S. J., Meera Khan, P., Davies, K. E., Hopkinson, D. A., Pearson, P. L., Weatherall, D. J. Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Brit. Med. J. 292: 851-853, 1986. [PubMed: 3008903, related citations] [Full Text]

  15. Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.

  16. Siebert, G., Amorim, A., Kompf, J. Human phosphoglycolate phosphatase (PGP) EC 3.1.3.18: linkage analysis. Hum. Genet. 53: 421-423, 1980. [PubMed: 6929271, related citations] [Full Text]

  17. Sparkes, R. S., Mohandas, T., Sparkes, M. C., Passage, M. B., Shulkin, J. D. Assignment of the human gene for phosphoglycolate phosphatase to chromosome 16. Hum. Genet. 54: 159-161, 1980. [PubMed: 6248449, related citations] [Full Text]

  18. Turner, V. S., Hopkinson, D. A. Biochemical characterization of the genetic variants of human phosphoglycolate phosphatase (PGP). Ann. Hum. Genet. 45: 121-127, 1981. [PubMed: 6274250, related citations] [Full Text]

  19. Weil, D., Van Cong, N., Finaz, C., Gross, M.-S., Cochet, C., de Grouchy, J., Frezal, J. Localization of the gene phosphoglycolate phosphatase (PGP) on chromosome 16 by interspecific hybridization. Hum. Genet. 51: 139-145, 1979. [PubMed: 229074, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
alopez : 12/16/2015
warfield : 3/4/1994
carol : 1/19/1994
carol : 10/20/1992
supermim : 3/16/1992
carol : 2/8/1991
carol : 10/1/1990

* 172280

PHOSPHOGLYCOLATE PHOSPHATASE; PGP


HGNC Approved Gene Symbol: PGP

Cytogenetic location: 16p13.3     Genomic coordinates (GRCh38): 16:2,211,593-2,214,840 (from NCBI)


TEXT

This enzyme (EC 3.1.3.18) may have an important regulatory influence on oxygen transport in man by indirectly affecting the level of red cell 2,3-diphosphoglycerate. (The spellings 'phosphoglycolate' and 'phosphoglycollate' have been used interchangeably, but the former is preferred.) Barker and Hopkinson (1978) devised a method for detecting PGP isozymes after starch-gel electrophoresis. They are present in all human tissues, with highest activities in skeletal and cardiac muscle. Six different electrophoretic phenotypes were identified. Family studies showed that these are determined by 3 alleles at an autosomal locus. In a sample of Europeans, the frequency of the alleles were PGP(1), 0.826; PGP(2), 0.129; PGP(3), 0.045. The 3-banded isozyme pattern in heterozygotes suggested that the enzyme is dimeric.


Mapping

The phosphoglycolate phosphatase locus was assigned to chromosome 16 by Donald et al. (1979) and by Blankenstein-Wijnen et al. (1979). Family data suggested that PGP is not close to 16qh or alpha-haptoglobin (Povey et al., 1980). The most likely regional assignment was considered to be 16p13 or 16p12, but a site on 16q could not be excluded (Povey et al., 1980). Koeffler et al. (1981) assigned the PGP locus to 16p by mouse-man somatic cell hybridization. Bale et al. (1984) suggested the existence of recombination heterogeneity in the linkage with haptoglobin. Reeders et al. (1986) showed that the PGP locus is, like the alpha-globin locus, close to the adult polycystic kidney disease locus (maximum lod = 8.21, theta = 0.00). PGP versus the 3-prime-HVR (hypervariable region 3-prime to the alpha-globin locus) gave a maximum lod score of 11.61 at theta = 0.00. Thus, PGP, HBA, and APCKD are all close together on 16p. Mulley et al. (1990) assigned the PGP gene to 16p13.3 by electrophoretic detection of enzymes from a human/mouse somatic cell panel, the members of which carried portions of human chromosome 16 with precisely defined breakpoints. Eiberg et al. (1993) reported a suggestion of linkage between manic-depressive illness (125480) and PGP; a maximum lod score of 2.20 at 0% recombination was found in a single large family. A second family was uninformative.


Molecular Genetics

Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

See Also:

Amorim et al. (1980); Blake and Hayes (1980); Brink et al. (1981); Golan et al. (1981); Henke et al. (1985); Siebert et al. (1980); Sparkes et al. (1980); Turner and Hopkinson (1981); Weil et al. (1979)

REFERENCES

  1. Amorim, A., Siebert, G., Ritter, H., Kompf, J. Formal genetics of phosphoglycolate phosphate (PGP): investigation on 272 mother-child pairs. Hum. Genet. 53: 419-420, 1980. [PubMed: 6246002] [Full Text: https://doi.org/10.1007/BF00287066]

  2. Bale, S. J., Chakravarti, A., Ferrell, R. E., Spence, M. A. Possible heterogeneity in the phosphoglycolate phosphatase (PGP)-haptoglobin alpha (HPA) linkage. Am. J. Hum. Genet. 36: 808-814, 1984. [PubMed: 6089552]

  3. Barker, R. F., Hopkinson, D. A. Genetic polymorphism of human phosphoglycolate phosphatase (PGP). Ann. Hum. Genet. 42: 143-151, 1978. [PubMed: 215071] [Full Text: https://doi.org/10.1111/j.1469-1809.1978.tb00644.x]

  4. Blake, N. M., Hayes, C. A population genetic study of phosphoglycolate phosphatase. Ann. Hum. Biol. 7: 481-484, 1980. [PubMed: 6263172] [Full Text: https://doi.org/10.1080/03014468000004591]

  5. Blankenstein-Wijnen, L. M. M., Schmieder, G., Grzeschik, K.-H., Pearson, P. L., Westerveld, A., Meera Khan, P. Chromosomal localization of PGP. (Abstract) Cytogenet. Cell Genet. 25: 138 only, 1979.

  6. Brink, W., Baur, M. P., Rittner, C. Population, formal genetics, and linkage relations of the phosphoglycolate phosphatase (PGP)--E.C.3.1.3.18. Hum. Genet. 59: 386-388, 1981. [PubMed: 6277765] [Full Text: https://doi.org/10.1007/BF00295477]

  7. Donald, L. J., Wang, H. S., Hamerton, J. L. Assignment of the phosphoglycollate phosphatase locus to chromosome 16. (Abstract) Cytogenet. Cell Genet. 25: 147-148, 1979.

  8. Eiberg, H., Ewald, H., Mors, O. Suggestion of linkage between manic-depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p. Clin. Genet. 44: 254-257, 1993. [PubMed: 8313623] [Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03892.x]

  9. Golan, R., Ben-Ezzer, J., Szeinberg, A. Phosphoglycolate phosphatase in several population groups in Israel. Hum. Hered. 31: 89-92, 1981. [PubMed: 6262215] [Full Text: https://doi.org/10.1159/000153184]

  10. Henke, J., Schweitzer, H., Sachs, V. Evidence for a 'new' allele at the phosphoglycolate phosphatase locus. Hum. Genet. 70: 86 only, 1985. [PubMed: 2987107] [Full Text: https://doi.org/10.1007/BF00389467]

  11. Koeffler, H. P., Sparkes, R. S., Stang, H., Mohandas, T. Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16. Proc. Nat. Acad. Sci. 78: 7015-7018, 1981. [PubMed: 6273902] [Full Text: https://doi.org/10.1073/pnas.78.11.7015]

  12. Mulley, J. C., Barton, N., Callen, D. F. Localisation of human PGP and HAGH genes to 16p13.3. Cytogenet. Cell Genet. 53: 175-176, 1990. [PubMed: 2164460] [Full Text: https://doi.org/10.1159/000132923]

  13. Povey, S., Jeremiah, S. J., Barker, R. F., Hopkinson, D. A., Robson, E. B., Cook, P. J. L., Solomon, E., Bobrow, M., Carritt, B., Buckton, K. E. Assignment of the human locus determining phosphoglycolate phosphatase (PGP) to chromosome 16. Ann. Hum. Genet. 43: 241-248, 1980. [PubMed: 6244770] [Full Text: https://doi.org/10.1111/j.1469-1809.1980.tb01557.x]

  14. Reeders, S. T., Breuning, M. H., Corney, G., Jeremiah, S. J., Meera Khan, P., Davies, K. E., Hopkinson, D. A., Pearson, P. L., Weatherall, D. J. Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Brit. Med. J. 292: 851-853, 1986. [PubMed: 3008903] [Full Text: https://doi.org/10.1136/bmj.292.6524.851]

  15. Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.

  16. Siebert, G., Amorim, A., Kompf, J. Human phosphoglycolate phosphatase (PGP) EC 3.1.3.18: linkage analysis. Hum. Genet. 53: 421-423, 1980. [PubMed: 6929271] [Full Text: https://doi.org/10.1007/BF00287067]

  17. Sparkes, R. S., Mohandas, T., Sparkes, M. C., Passage, M. B., Shulkin, J. D. Assignment of the human gene for phosphoglycolate phosphatase to chromosome 16. Hum. Genet. 54: 159-161, 1980. [PubMed: 6248449] [Full Text: https://doi.org/10.1007/BF00278965]

  18. Turner, V. S., Hopkinson, D. A. Biochemical characterization of the genetic variants of human phosphoglycolate phosphatase (PGP). Ann. Hum. Genet. 45: 121-127, 1981. [PubMed: 6274250] [Full Text: https://doi.org/10.1111/j.1469-1809.1981.tb00313.x]

  19. Weil, D., Van Cong, N., Finaz, C., Gross, M.-S., Cochet, C., de Grouchy, J., Frezal, J. Localization of the gene phosphoglycolate phosphatase (PGP) on chromosome 16 by interspecific hybridization. Hum. Genet. 51: 139-145, 1979. [PubMed: 229074] [Full Text: https://doi.org/10.1007/BF00287167]


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

Edit History:
alopez : 12/16/2015
warfield : 3/4/1994
carol : 1/19/1994
carol : 10/20/1992
supermim : 3/16/1992
carol : 2/8/1991
carol : 10/1/1990



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 6, 2024