cellular
azoospermia
(
J:314468
)
|
• In spermatocytes the number of double stranded breaks, indicated by DMC1 foci, is normal in early leptotene and zygotene but double stranded repair is delayed, PRDM-dependent hotspots differ somewhat from controls, and there are increased unsynapsed chromosomes
|
• meiosis is blocked at pachynema/diplonema, with normal proportions of leptotene and zygotene spermatocytes, no spermatocytes are found in seminiferous tubules beyond prophase 1, and there is increased apoptotic germ cells in testes
|
• spermatocytes show decreased PRDM9-dependent H3K4 and H3K36 trimethylation: decreased H3K4me3 in leptonema and zygonema and slightly decreased H3K36me3 in leptonema and zygonema but not diplonema; H3K4me3 ChIP-seq from spermatocytes identified fewer than normal peaks, with approximately 38.7% of hotspot peaks missing, in particular those with low H3K4 trimethylation in controls; reduced levels of H3K36 trimethylation, particularly in intergenic region hotspots
|
reproductive system
azoospermia
(
J:314468
)
|
• In spermatocytes the number of double stranded breaks, indicated by DMC1 foci, is normal in early leptotene and zygotene but double stranded repair is delayed, PRDM-dependent hotspots differ somewhat from controls, and there are increased unsynapsed chromosomes
|
• spermatocytes show decreased PRDM9-dependent H3K4 and H3K36 trimethylation: decreased H3K4me3 in leptonema and zygonema and slightly decreased H3K36me3 in leptonema and zygonema but not diplonema; H3K4me3 ChIP-seq from spermatocytes identified fewer than normal peaks, with approximately 38.7% of hotspot peaks missing, in particular those with low H3K4 trimethylation in controls; reduced levels of H3K36 trimethylation, particularly in intergenic region hotspots
|
small testis
(
J:314468
)
|
• decreased testes weight in adults but not at 14 or 18 days of age
|
• meiosis is blocked at pachynema/diplonema, with normal proportions of leptotene and zygotene spermatocytes, no spermatocytes are found in seminiferous tubules beyond prophase 1, and there is increased apoptotic germ cells in testes
|
endocrine/exocrine glands
small testis
(
J:314468
)
|
• decreased testes weight in adults but not at 14 or 18 days of age
|