General Flashcards
Define genetic sex
Determined by presence/absence of a Y chromosome
Primary sex characteristics
Development of the gonad
Sperm/egg development
Usually dependent on genotype (genetic sex)
Secondary sex characteristics
Sex-specific structures of the urogenital system
External genitalia
Dependent on hormone signalling/signals from the environment
What are pseudo-autosomal regions?
Regions on the X and Y chromosome responsible for pairing during meiosis
Gene responsible for sex determination on Y chromosome
SRY gene
How can have an XX male?
SRY gene is on the X chromosome
How can have an XY female?
Absence of SRY gene on Y chromosome OR
Has a mutation which makes the person immune to testosterone.
What does the SRY gene do?
Usually located on short arm of Y chromosome
Is responsible for sex determination
Encodes testis determining factor (TDF)
TDF
Testis determining factor
From SRY gene
Karyotype XO
Turner Syndrome
Phenotype: female
Fertility: no
Karyotype: XXY
Kleinfelter Syndrome
Phenotype: male
Fertility: no
Karyotype: XYY
XYY syndrome
Phenotype: male
Fertility: yes
Karyotype: XXX
XXX syndrome
Phenotype: female
Fertility: reduced
Karyotype: XXXY
Triple X Y syndrome
Phenotype: male
Fertility: no
Karyotype: XXXX
Tetra X syndrome
Phenotype: female
Fertility: ?
Karyotype: XXXXY
Tetra X Y syndrome
Phenotype: male
Fertility: no
Main adhesion factors
Cadherins
Integrins
IgCAMs
Selectins
Cadherins mediate…
Attachment cell-to-cell
Integrins mediate…
Attachment cell-to-matrix
During development, cadherins…
Mediate cell sorting