Analysis Tools
reproductive system
azoospermia
(
J:346376
)
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• adult males show absence of spermatozoa in the epididymis
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• LINE1 ORF1 (ORF1p) protein is abundantly expressed in spermatocytes, unlike in wild-type cells
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• IAP GAG protein is detected in spermatogonia, unlike in wild-type cells
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• germ cell arrest at the early pachytene stage
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• adult testes show widespread apoptosis of meiotic cells, as determined by a TUNEL assay
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• males show defective piRNA-directed de novo transposon methylation with activation of young long interspersed nuclear element 1 (LINE1) and intra-cisternal A-type particle (IAP) transposons; LINE1 ORF1 (ORF1p) and IAP GAG proteins are expressed in spermatocytes and spermatogonia, respectively, indicating impaired transposon silencing
• RNA-seq shows upregulation of LINE1 and endogenous retrovirus (ERV) transposons in P20 testes
• young LINE1 families L1Md_A, L1Md_Gf, and L1Md_T are hypomethylated in P14 spermatogonia but this is less pronounced in the older L1Md_F family
• ERV IAPEy also fails to be fully methylated in P14 spermatogonia, unlike IAPEz, ERVL, or short interspersed nuclear element (SINE) transposons
• defective promoter DNA methylation is detected in IAPEy but less so in IAPEz families; however, >25% CpG methylation loss is noted within both families when viewed at the single locus levels
• notably, genic, intergenic, CpG island, and gene promoter regions, or collective transposon DNA methylation levels are not affected in P14 spermatogonia
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• aberrant seminiferous tubules exhibit an early pachytene meiotic arrest, resulting in a Sertoli cell-only phenotype
• failing/dying pachytene cells are observed at stage I of the seminiferous cycle
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• average testis weight of adult males is significantly lower than that of heterozygous controls
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• atrophic testes in adult males
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• adult males mated to wild-type females fail to produce offspring
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cellular
azoospermia
(
J:346376
)
|
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• adult males show absence of spermatozoa in the epididymis
|
|
|
• LINE1 ORF1 (ORF1p) protein is abundantly expressed in spermatocytes, unlike in wild-type cells
|
|
|
• IAP GAG protein is detected in spermatogonia, unlike in wild-type cells
|
|
|
• germ cell arrest at the early pachytene stage
|
|
|
• adult testes show widespread apoptosis of meiotic cells, as determined by a TUNEL assay
|
|
|
• males show defective piRNA-directed de novo transposon methylation with activation of young long interspersed nuclear element 1 (LINE1) and intra-cisternal A-type particle (IAP) transposons; LINE1 ORF1 (ORF1p) and IAP GAG proteins are expressed in spermatocytes and spermatogonia, respectively, indicating impaired transposon silencing
• RNA-seq shows upregulation of LINE1 and endogenous retrovirus (ERV) transposons in P20 testes
• young LINE1 families L1Md_A, L1Md_Gf, and L1Md_T are hypomethylated in P14 spermatogonia but this is less pronounced in the older L1Md_F family
• ERV IAPEy also fails to be fully methylated in P14 spermatogonia, unlike IAPEz, ERVL, or short interspersed nuclear element (SINE) transposons
• defective promoter DNA methylation is detected in IAPEy but less so in IAPEz families; however, >25% CpG methylation loss is noted within both families when viewed at the single locus levels
• notably, genic, intergenic, CpG island, and gene promoter regions, or collective transposon DNA methylation levels are not affected in P14 spermatogonia
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|
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• adult testis sections show strong gammaH2AX staining in meiocytes, indicating extensive DNA damage
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endocrine/exocrine glands
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• aberrant seminiferous tubules exhibit an early pachytene meiotic arrest, resulting in a Sertoli cell-only phenotype
• failing/dying pachytene cells are observed at stage I of the seminiferous cycle
|
|
|
• average testis weight of adult males is significantly lower than that of heterozygous controls
|
|
|
• atrophic testes in adult males
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homeostasis/metabolism
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• adult testis sections show strong gammaH2AX staining in meiocytes, indicating extensive DNA damage
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