Sex Determination and Gene Dosage
Introduction
Sex Determination
Pseudoautosomal Region
– doesn’t mean muchGenetic Determination
Karyotype |
Phenotype |
Locus involved |
46, XY |
normal male |
TDF (SRY) expressed (Y-linked) |
46, XX |
normal female |
No SRY |
46, XY p-:46, XY |
Female |
Absence of TDF (SRY) |
46, XY |
Female |
Androgen receptor (x-linked) |
46, XX |
Male |
Presence of TDF (SRY) |
45, X |
Female with amenorrhea |
Ovarian maintainance |
Sex Chromosome Aneuploids
X inactivation (dosage compensation)
The Timing of X Inactivation