Module 4 Flashcards
Sexual Dimorphism & What is it determined by?
Morphological differences between the sexes. It is determined by the pair or sex chromosomes.
(XX - female, XY - male)
(differ from autosomes which don’t determine sex)
Pseudo-autosomal regions (PAR) 1 and 2
- short, autosomal-like homologous regions
- approx. 30 genes
- one XY or both XX regions pair and cross over during meiosis
Inheritance of sex chromosomes
- XX individuals inherit an x-chromosome from each parent
- XY individuals inherit their X chromosome from their mother and Y from their father
Y-linked patterns of inheritance
- the trait is seen only in males
- all male descendants of an affected man will exhibit the trait
- females never inherit the trait/can’t pass it on to offspring
- ex. SRY gene
X-dosage compensation
One X chromosome is randomly selected for epigenetic silencing
- no transcription from the silenced X chromosome
- silenced chromosome forms a condensed transcriptionally inactive mass in nucleus of female somatic cells
The epigenetically silenced chromosome in females is called a…
Barr body
Gender reveal party
a celebration where an expectant mother shares/discovers the assumed gender of her baby, based on the baby’s genitalia
Gender
used to describe the characteristics of women and men that are socially constructed
X-inactivation & inheritance of alleles - NORMAL
- healthy cells have two unaffected/normal copies of the x-chromosome
- they could carry either the homozygous or heterozygous allele for x-linked gene
- each cell has one x-chromosome that is epigenetically silenced
- silenced x is chosen randomly
X-inactivation & inheritance of alleles - DISEASED
In females (XX)
if the mutation is heterozygous
- x-linked recessive: presence of normal/healthy non-silenced X is sufficient for normal tissue func.
- x-linked dominant: presence of normal/healthy non silenced X is insufficient for normal tissue func.
if mutation is homozygous: all cells will be affected even with x-inactivation
In males (XY)
- all cells will be affected since only one copy of X-chromosome (more severe affected)
X-linked disorders - examples
Recessive disorders
- hemophilia: blood clotting disorder
- red/green colour blindness: affects 7-10% of men & 0.5-1% of women
- Becker’s muscular dystrophy: milder form of Duchenne (causes progressive muscle weakness of the legs/pelvis
Dominant disorders
- hypophoshataemia: aka vitamin-d-resistant rickets
- rett syndrome: brain syndrome that occurs mostly in females (lethal in males)
non-binary
people don’t identify as either gender despite their biological sex
transgender
identify with the gender opposite to that which has been historically assigned to their biological sex