reproductive system
azoospermia
(
J:292036
)
• spermatids absent from testes, mature sperm absent from epididymis
|
• misaligned univalent chromosomes in metaphase I spermatocytes
|
• autosomal asynapsis in pachytene spermatocytes
• non-homologous synapsis in spermatocytes
• univalent short autosomal chromosomes in spermatocytes
|
• significant accumulation of early prophase I (leptotene and zygotene) and reduction of late prophase I (diplotene and metaphase I) spermatocyte populations
|
• sex chromosome asynapsis in pachytene spermatocytes
• sex chromosome excessive synapsis (outside PAR) in pachytene spermatocytes
• univalent sex chromosomes in spermatocytes
|
• in prophase I and metaphase I spermatocytes in seminiferous tubules at stage XII
|
small testis
(
J:292036
)
|
cellular
azoospermia
(
J:292036
)
• spermatids absent from testes, mature sperm absent from epididymis
|
• misaligned univalent chromosomes in metaphase I spermatocytes
|
• autosomal asynapsis in pachytene spermatocytes
• non-homologous synapsis in spermatocytes
• univalent short autosomal chromosomes in spermatocytes
|
• significant accumulation of early prophase I (leptotene and zygotene) and reduction of late prophase I (diplotene and metaphase I) spermatocyte populations
|
• sex chromosome asynapsis in pachytene spermatocytes
• sex chromosome excessive synapsis (outside PAR) in pachytene spermatocytes
• univalent sex chromosomes in spermatocytes
|
• in prophase I and metaphase I spermatocytes in seminiferous tubules at stage XII
|
• unrepaired DSBs persist until late prophase I in spermatocytes
• reduced intensity of BRCA2, RAD1 and DMC1 punctuate foci at DSBs in spermatocytes
• increased intensity of SPATA22 punctuate foci at DSBs in spermatocytes
|
endocrine/exocrine glands
small testis
(
J:292036
)
|
homeostasis/metabolism
• unrepaired DSBs persist until late prophase I in spermatocytes
• reduced intensity of BRCA2, RAD1 and DMC1 punctuate foci at DSBs in spermatocytes
• increased intensity of SPATA22 punctuate foci at DSBs in spermatocytes
|