Limits...
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.

Mou L, Xie N, Yang L, Liu Y, Diao R, Cai Z, Li H, Gui Y - PLoS ONE (2015)

Bottom Line: A number of coding mutations unique to the patient group, including two synonymous mutations and six missense mutations, were identified.Of the missense mutations, our functional assay demonstrated that the V385L mutation caused the reduced functioning of DAX-1.This novel mutation (p.

View Article: PubMed Central - PubMed

Affiliation: Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China; Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Biomedical Research Institute, Shenzhen PKU-HKUST Medical Center, Shenzhen, 518036, China.

ABSTRACT
Secretory azoospermia is a severe form of male infertility caused by unknown factors. DAX-1 is predominantly expressed in mammalian reproductive tissues and plays an important role in spermatogenesis because Dax-1 knockout male mice show spermatogenesis defects. To examine whether DAX-1 is involved in the pathogenesis of secretory azoospermia in humans, we sequenced all of the exons of DAX-1 in 776 patients diagnosed with secretory azoospermia and 709 proven fertile men. A number of coding mutations unique to the patient group, including two synonymous mutations and six missense mutations, were identified. Of the missense mutations, our functional assay demonstrated that the V385L mutation caused the reduced functioning of DAX-1. This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis.

No MeSH data available.


Related in: MedlinePlus

Testicular histology analysis of the patient with the V385L mutation by hematoxylin and eosin staining (Magnification: 400x).The spermatogenesis process was mainly blocked at the spermatocyte stage.
© Copyright Policy
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4514677&req=5

pone.0133997.g004: Testicular histology analysis of the patient with the V385L mutation by hematoxylin and eosin staining (Magnification: 400x).The spermatogenesis process was mainly blocked at the spermatocyte stage.

Mentions: The clinical information of the patients with DAX-1 missense mutations is shown in Table 3. The patient with the V385L mutation had normal hormone levels and no relevant reproductive family history. The histology of the testes of this patient confirmed the diagnosis of non-obstructive azoospermia and showed an arrest of spermatogenesis at the spermatocyte stage (Fig 4).


A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.

Mou L, Xie N, Yang L, Liu Y, Diao R, Cai Z, Li H, Gui Y - PLoS ONE (2015)

Testicular histology analysis of the patient with the V385L mutation by hematoxylin and eosin staining (Magnification: 400x).The spermatogenesis process was mainly blocked at the spermatocyte stage.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4514677&req=5

pone.0133997.g004: Testicular histology analysis of the patient with the V385L mutation by hematoxylin and eosin staining (Magnification: 400x).The spermatogenesis process was mainly blocked at the spermatocyte stage.
Mentions: The clinical information of the patients with DAX-1 missense mutations is shown in Table 3. The patient with the V385L mutation had normal hormone levels and no relevant reproductive family history. The histology of the testes of this patient confirmed the diagnosis of non-obstructive azoospermia and showed an arrest of spermatogenesis at the spermatocyte stage (Fig 4).

Bottom Line: A number of coding mutations unique to the patient group, including two synonymous mutations and six missense mutations, were identified.Of the missense mutations, our functional assay demonstrated that the V385L mutation caused the reduced functioning of DAX-1.This novel mutation (p.

View Article: PubMed Central - PubMed

Affiliation: Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China; Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Biomedical Research Institute, Shenzhen PKU-HKUST Medical Center, Shenzhen, 518036, China.

ABSTRACT
Secretory azoospermia is a severe form of male infertility caused by unknown factors. DAX-1 is predominantly expressed in mammalian reproductive tissues and plays an important role in spermatogenesis because Dax-1 knockout male mice show spermatogenesis defects. To examine whether DAX-1 is involved in the pathogenesis of secretory azoospermia in humans, we sequenced all of the exons of DAX-1 in 776 patients diagnosed with secretory azoospermia and 709 proven fertile men. A number of coding mutations unique to the patient group, including two synonymous mutations and six missense mutations, were identified. Of the missense mutations, our functional assay demonstrated that the V385L mutation caused the reduced functioning of DAX-1. This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis.

No MeSH data available.


Related in: MedlinePlus