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Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia
Year:
2015
Authors :
צינמון, יובל
;
.
Volume :
32
Co-Authors:
Maor-Sagie, E., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel, Department of Obstetrics and Gynecology, Hadassah Ein-Karem, Hebrew University Medical Center, Jerusalem, Israel
Cinnamon, Y., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel, Institute of Animal Science, ARO, The Volcani Center, PO Box 6, Bet Dagan, Israel
Yaacov, B., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Shaag, A., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Goldsmidt, H., Department of Pathology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Zenvirt, S., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Laufer, N., Department of Obstetrics and Gynecology, Hadassah Ein-Karem, Hebrew University Medical Center, Jerusalem, Israel
Richler, C., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Frumkin, A., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Facilitators :
From page:
887
To page:
891
(
Total pages:
5
)
Abstract:
Purpose To determine the molecular basis of familial, autosomal- recessive, non-obstructive azoospermia in a consanguineous Iranian Jewish family. Methods We investigated the genetic cause of non-obstructive azoospermia in two affected siblings from a consanguineous family. Homozygosity mapping in the DNA samples of the patients and their normospermic brother was followed by exome analysis of one of the patients. Other family members were genotyped for the mutation by Sanger sequencing. The mutation effect was demonstrated by immunostaining of the patients’ testicular tissue. Results The two patients were homozygous for a splice site mutation in SYCE1 which resulted in retention of intron three in the cDNA and premature stop codon. SYCE1 encodes a Synaptonemal Complex protein which plays an essential role during meiosis. Immunostaining of patient’s testicular tissue with anti-Syce1 antibody revealed an undetectable level of Syce1. Histological examination of the patients’ tissue disclosed immature-stages spermatocytes without mature forms, indicating maturation arrest. Conclusion The significance of most synaptonemal complex proteins was previously demonstrated in a mutant mouse model. The present report underscores the importance of synaptonemal complex proteins in spermatogenenesis in humans. Our new approach, combining homozygosity mapping and exome sequencing, resulted in one of the first reports of an autosomal-recessive form of NOA. © Springer Science+Business Media New York 2015.
Note:
Related Files :
gene mapping
genetic analysis
Male
Maturation arrest
sibling
unclassified drug
עוד תגיות
תוכן קשור
More details
DOI :
10.1007/s10815-015-0445-y
Article number:
Affiliations:
Database:
סקופוס
Publication Type:
מאמר
;
.
Language:
אנגלית
Editors' remarks:
ID:
21015
Last updated date:
02/03/2022 17:27
Creation date:
16/04/2018 23:40
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Scientific Publication
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia
32
Maor-Sagie, E., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel, Department of Obstetrics and Gynecology, Hadassah Ein-Karem, Hebrew University Medical Center, Jerusalem, Israel
Cinnamon, Y., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel, Institute of Animal Science, ARO, The Volcani Center, PO Box 6, Bet Dagan, Israel
Yaacov, B., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Shaag, A., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Goldsmidt, H., Department of Pathology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Zenvirt, S., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Laufer, N., Department of Obstetrics and Gynecology, Hadassah Ein-Karem, Hebrew University Medical Center, Jerusalem, Israel
Richler, C., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Frumkin, A., The Monique and Jacques Roboh Department of Genetic Research,Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia
Purpose To determine the molecular basis of familial, autosomal- recessive, non-obstructive azoospermia in a consanguineous Iranian Jewish family. Methods We investigated the genetic cause of non-obstructive azoospermia in two affected siblings from a consanguineous family. Homozygosity mapping in the DNA samples of the patients and their normospermic brother was followed by exome analysis of one of the patients. Other family members were genotyped for the mutation by Sanger sequencing. The mutation effect was demonstrated by immunostaining of the patients’ testicular tissue. Results The two patients were homozygous for a splice site mutation in SYCE1 which resulted in retention of intron three in the cDNA and premature stop codon. SYCE1 encodes a Synaptonemal Complex protein which plays an essential role during meiosis. Immunostaining of patient’s testicular tissue with anti-Syce1 antibody revealed an undetectable level of Syce1. Histological examination of the patients’ tissue disclosed immature-stages spermatocytes without mature forms, indicating maturation arrest. Conclusion The significance of most synaptonemal complex proteins was previously demonstrated in a mutant mouse model. The present report underscores the importance of synaptonemal complex proteins in spermatogenenesis in humans. Our new approach, combining homozygosity mapping and exome sequencing, resulted in one of the first reports of an autosomal-recessive form of NOA. © Springer Science+Business Media New York 2015.
Scientific Publication
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