reproductive system
• autosomes are paired but sex chromosomes are frequently unpaired
• pairing and alignment are more severely affected in oocytes compared to spermatocytes
|
• persistence of unrepaired double strand breaks
• processing of transitional nodules to late recombination nodules is impaired
|
• axial elements completely fail to synapse in pachytene-like spermatocytes and oocytes
• partially aligned axial elements lacking central element structures are seen in spermatocytes
|
small ovary
(
J:172714
)
|
small testis
(
J:172714
)
|
• programmed cell death at stage IV
|
azoospermia
(
J:172714
)
• no post meiotic cells are detected
|
• many apoptotic meiotic cells and no post meiotic cells are detected
• a marker of double strand breaks fails to be confined to the sex chromosomes during pachytene-like stages and persists into advanced stages of prophase suggesting a defect in double strand break repair
• processing of transitional nodules to late recombination nodules is impaired
|
• arrest during pachytene
|
endocrine/exocrine glands
small ovary
(
J:172714
)
|
small testis
(
J:172714
)
|
cellular
azoospermia
(
J:172714
)
• no post meiotic cells are detected
|
• autosomes are paired but sex chromosomes are frequently unpaired
• pairing and alignment are more severely affected in oocytes compared to spermatocytes
|
• persistence of unrepaired double strand breaks
• processing of transitional nodules to late recombination nodules is impaired
|
• many apoptotic meiotic cells and no post meiotic cells are detected
• a marker of double strand breaks fails to be confined to the sex chromosomes during pachytene-like stages and persists into advanced stages of prophase suggesting a defect in double strand break repair
• processing of transitional nodules to late recombination nodules is impaired
|
• axial elements completely fail to synapse in pachytene-like spermatocytes and oocytes
• partially aligned axial elements lacking central element structures are seen in spermatocytes
|