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Gene Review:

DAZ3 - deleted in azoospermia 3

Homo sapiens

Synonyms: Deleted in azoospermia protein 3

D'Amico, G.L. et al., Machev, N. et al., Fernandes, S. et al.

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Disease relevance of DAZ3

CONCLUSIONS: The only deletion type to show an association with infertility was DAZ3/4-CDY1a (p = 0.042), suggesting that most gr/gr deletions are neutral variants [1].

High impact information on DAZ3

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N [2].
The loss of two signals in this subject may relate to a deletion of both DAZ2 and DAZ3 or of DAZ4 gene [3].

References

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. Machev, N., Saut, N., Longepied, G., Terriou, P., Navarro, A., Levy, N., Guichaoua, M., Metzler-Guillemain, C., Collignon, P., Frances, A.M., Belougne, J., Clemente, E., Chiaroni, J., Chevillard, C., Durand, C., Ducourneau, A., Pech, N., McElreavey, K., Mattei, M.G., Mitchell, M.J. J. Med. Genet. (2004) [Pubmed]
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Fernandes, S., Paracchini, S., Meyer, L.H., Floridia, G., Tyler-Smith, C., Vogt, P.H. Am. J. Hum. Genet. (2004) [Pubmed]
Quantitative evaluation of partial deletions of the DAZ gene cluster. D'Amico, G.L., Di Benedetto, D., Pezzino, F.M., Giuffrida, V., Libra, M., Fichera, M., Mauceri, G., Rappazzo, G., D'Agata, R., Vicari, E., Travali, S., Calogero, A.E. Int. J. Mol. Med. (2006) [Pubmed]

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