Genes/proteins to remember

Question 1

BMP15 gene

Answer 1

Encodes bone morphogenetic protein 15 - involved in folliculogenesis, the process in which primordial follicles develop into pre-ovulatory follicles.

Question 2

GDF-9 gene

Answer 2

Gene that encodes Growth differentiation factor-9 protein
Synthesized by ovarian somatic cells directly affect oocyte growth and is required for folliculogenesis.
Part of the TGFb superfamily.

Question 3

Cumulin

Answer 3

Potent oocyte secreted heterodimer TGFB family
Activator of granulosa cells.

Question 4

HOXA-10

Answer 4

Transcription factor important for regulation and endometrial receptivity and endometrial decidualisaiton

Question 5

16srRNA

Answer 5

16s ribosomalRNA is a gene that is highly conserved between different species of bacteria.
16S rRNA gene sequences also contain hypervariable regions that can provide species-specific signature sequences useful for identification of bacteria.
As a result, 16S rRNA gene sequencing has become prevalent in medical microbiology as a rapid and cheap alternative to phenotypic methods of bacterial identification.
So through tissue sample, bacterial RNA amplification and analysis using NGS can be a useful way to test for bacterial disease.

Question 6

cohesin

Answer 6

Protein important in meiosis. Cohesin degradation a key contributor to increased aneuploidy with AMA.
Initiation and resolution of crossover during prophase of meiosis I.
Meiotic regulation of centromeric pairing and pericentromeric recombination.

Question 7

cell signalling pathways

Answer 7

Question 8

XIST and TSIX

Answer 8

Non-coding complementary RNAs that are responsible for the initiation and control of X inactivation.
Results in transcriptional silencing of one of the two X chromosomes within a cell, the inactivated chromosome condenses into a Barr body

Question 9

Progesterone receptor/endometrial receptivity genes

Answer 9

BMP2, WNT4, HOXa10

Question 10

Male gonad differentiation

Answer 10

SRY gene
SOX9
FGF9
Steroid factor 1
AMH
Testosterone

Question 11

Female gonad differentiatoin

Answer 11

mainly lack of SRY and SOX9.
WNT4 and RSP01.

Question 12

FOXL2

Answer 12

Transcription factor belonging to forkhead box protein L2 family.
Involved in sex determination. Some knock out mouse modelling suggests that lack of causes ovarian somatic cells to transdifferentiated into cells type of the testicle.

• over expressed in granulosa cell tumours
• possibly in endometriosis

Mutations in gene cause BPEI syndrome (blepharophimosis, epicanthus inversus syndrome, and POI

Question 13

CYP21A2

Answer 13

Gene encodes 21 hydroxylase (chromosome 6)
Mutation leads to CAH

Question 14

List out the types of oestrogen

Answer 14

Oestrone (E1)
Oestradiol (E2) - 17b oestradiol most active form
Oestriol (E3)
Oestretol (E4)

Conjugated equine oestrogen (CEE) - synthetic combination of oestrogens
Ethinyl oestradiol (synthetic form of oestradiol)

Androstenedione aromatised into Oestrone (E1)
Testosterone aromatised into Oestradiol (E2)

Question 15

MED12

Answer 15

Genetic mutation in this can increase risk of fibroids

Question 16

What is the role of Phospholipase protein called sperm-specific phospholipase C zeta (PLCz)

Answer 16

Activates calcium release allowing for corticol reaction and is the key protein that initiates this calcium signalling once the pro-nucleus of the sperm cell has been released into the egg.

Question 17

HIPPO pathway

Answer 17

Important for maintaining organ size.
In ovary maintains dormancy of primordial follicle pool.
Disruption of HIPPO pathway (usually mechanically with drilling/wedge resection/injection etc or can be through medication - AKT) leads to follicular growth and development.
Mechanical disruption –> increase actin polymerisation –> protein synthesis of YAP –> follicular growth