Entry - *125880 - DIAPHORASE 3; DIA3 - OMIM

 
 
* 125880

DIAPHORASE 3; DIA3


Alternative titles; symbols

SPERM DIAPHORASE
GONADAL DIAPHORASE



▼ TEXT

Fisher et al. (1977) interpreted diaphorase isozymes in terms of 3 loci, DIA1 (613213), DIA2 (600941), and DIA3. DIA3 codes for the polymorphic sperm diaphorase; the products of this locus are found also in fetal tissues, including placenta, and in adult brain and gonads. The products of the 3 loci differ in substrate specificity, thermostability and molecular size.

Electrophoretic variants of DIA3 were first demonstrated by Caldwell et al. (1976), who referred to it as 'sperm diaphorase.' Since DIA3 activity occurs also in ovary, oviduct and uterus, 'gonadal diaphorase' is a preferred term.

DIA3 shows 3 common alleles (Kuhnl et al., 1977) and, in Japanese, 2 additional rare alleles (Sebetan and Kudo, 1986). Pawlowski (1990) described a rare variant.

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

▼ REFERENCES

  1. Caldwell, K., Blake, E. T., Sensabaugh, G. F. Sperm diaphorase: genetic polymorphism of a sperm-specific enzyme in man. Science 191: 1185-1187, 1976. [PubMed: 3851, related citations] [Full Text]

  2. Edwards, Y. H., Potter, J. E., Hopkinson, D. A. A comparison of the biochemical properties of the human diaphorase (DIA-3) isozymes determined by the common alleles 1, 2 and 3. Ann. Hum. Genet. 42: 293-302, 1979. [PubMed: 434772, related citations] [Full Text]

  3. Fisher, R. A., Edwards, Y. H., Putt, W., Potter, J. An interpretation of human diaphorase isozymes in terms of three gene loci DIA-1, DIA-2, and DIA-3. Ann. Hum. Genet. 41: 139-149, 1977. [PubMed: 563699, related citations] [Full Text]

  4. Kuhnl, P., Langanke, U., Spielmann, W., Neubauer, M. Investigations on the polymorphism of sperm diaphorase in man--evidence for a third common allele, SD(3). Hum. Genet. 40: 79-86, 1977. [PubMed: 604247, related citations] [Full Text]

  5. Pawlowski, R. A new electrophoretically distinguishable variant of human diaphorase locus 3 (DIA3): DIA3 6-1. Hum. Genet. 84: 213 only, 1990. [PubMed: 2298459, related citations] [Full Text]

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

  7. Sebetan, I. M., Akaishi, S., Matsumoto, H., Toyomasu, T. Genetic variants of the human diaphorase DIA3 in Japanese: report of a new rare allele, DIA3(4). Jpn. J. Hum. Genet. 27: 313-318, 1982.

  8. Sebetan, I. M., Kudo, T. A new allele at the human diaphorase DIA3 locus: DIA3(5). Hum. Genet. 72: 354-355, 1986. [PubMed: 3754538, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
carol : 01/20/2010
carol : 6/30/2009
alopez : 3/20/2009
alopez : 4/19/2004
terry : 4/16/2004
dkim : 6/30/1998
warfield : 2/14/1994
carol : 3/26/1992
supermim : 3/16/1992
supermim : 3/20/1990
supermim : 2/28/1990
ddp : 10/26/1989

* 125880

DIAPHORASE 3; DIA3


Alternative titles; symbols

SPERM DIAPHORASE
GONADAL DIAPHORASE



TEXT

Fisher et al. (1977) interpreted diaphorase isozymes in terms of 3 loci, DIA1 (613213), DIA2 (600941), and DIA3. DIA3 codes for the polymorphic sperm diaphorase; the products of this locus are found also in fetal tissues, including placenta, and in adult brain and gonads. The products of the 3 loci differ in substrate specificity, thermostability and molecular size.

Electrophoretic variants of DIA3 were first demonstrated by Caldwell et al. (1976), who referred to it as 'sperm diaphorase.' Since DIA3 activity occurs also in ovary, oviduct and uterus, 'gonadal diaphorase' is a preferred term.

DIA3 shows 3 common alleles (Kuhnl et al., 1977) and, in Japanese, 2 additional rare alleles (Sebetan and Kudo, 1986). Pawlowski (1990) described a rare variant.

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

See Also:

Edwards et al. (1979); Sebetan et al. (1982)

REFERENCES

  1. Caldwell, K., Blake, E. T., Sensabaugh, G. F. Sperm diaphorase: genetic polymorphism of a sperm-specific enzyme in man. Science 191: 1185-1187, 1976. [PubMed: 3851] [Full Text: https://doi.org/10.1126/science.3851]

  2. Edwards, Y. H., Potter, J. E., Hopkinson, D. A. A comparison of the biochemical properties of the human diaphorase (DIA-3) isozymes determined by the common alleles 1, 2 and 3. Ann. Hum. Genet. 42: 293-302, 1979. [PubMed: 434772] [Full Text: https://doi.org/10.1111/j.1469-1809.1979.tb00663.x]

  3. Fisher, R. A., Edwards, Y. H., Putt, W., Potter, J. An interpretation of human diaphorase isozymes in terms of three gene loci DIA-1, DIA-2, and DIA-3. Ann. Hum. Genet. 41: 139-149, 1977. [PubMed: 563699] [Full Text: https://doi.org/10.1111/j.1469-1809.1977.tb01908.x]

  4. Kuhnl, P., Langanke, U., Spielmann, W., Neubauer, M. Investigations on the polymorphism of sperm diaphorase in man--evidence for a third common allele, SD(3). Hum. Genet. 40: 79-86, 1977. [PubMed: 604247] [Full Text: https://doi.org/10.1007/BF00280833]

  5. Pawlowski, R. A new electrophoretically distinguishable variant of human diaphorase locus 3 (DIA3): DIA3 6-1. Hum. Genet. 84: 213 only, 1990. [PubMed: 2298459] [Full Text: https://doi.org/10.1007/BF00208946]

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

  7. Sebetan, I. M., Akaishi, S., Matsumoto, H., Toyomasu, T. Genetic variants of the human diaphorase DIA3 in Japanese: report of a new rare allele, DIA3(4). Jpn. J. Hum. Genet. 27: 313-318, 1982.

  8. Sebetan, I. M., Kudo, T. A new allele at the human diaphorase DIA3 locus: DIA3(5). Hum. Genet. 72: 354-355, 1986. [PubMed: 3754538] [Full Text: https://doi.org/10.1007/BF00290965]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 01/20/2010
carol : 6/30/2009
alopez : 3/20/2009
alopez : 4/19/2004
terry : 4/16/2004
dkim : 6/30/1998
warfield : 2/14/1994
carol : 3/26/1992
supermim : 3/16/1992
supermim : 3/20/1990
supermim : 2/28/1990
ddp : 10/26/1989



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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 7, 2024