PAX, SOX, POU and Zn Finger Genes Flashcards
What PAX genes are in Group I
PAX 1 and 9
What PAX genes are in Group 2
PAX 2, 5 and 8
What PAX genes are in Group 3
PAX 3 and 7
What PAX genes are in Group 4
PAX 4 and 6
What does a mutation in PAX 1 Cause
Curved ‘undulated’ spine in mice
What does a mutation in PAX9 cause
Oligodontia in humans
Missense mutations
Lack of 6 teeth
What does a mutation in PAX2 cause
Renal Colomba Syndrome
Involves optic nerve tumours, kidney and ear defects
What does a mutation in PAX8 cause
Follicular thyroid tumours
t(2:3) causes a PAX8-PPARgamma fusion protein to form which is an oncogenic fusion protein that you can test for
What does a mutation in PAX5 cause
Large cell lymphomas (non-Hodgkins)
t(9:14) puts PAX5 next to the adjacent IG heavy gene that is highly expressed
What does a germline mutation in PAX3 cause
PAX3 is required for embryonic migration and neural crest cells
Mice = splotch mutation = abnormalities of pigmentation and NTDs Human = Waardenurg Syndrome = hypopigmentation and deafness
What does a somatic mutation in PAX3 cause
Alveolar rhabdomyosarcoma
t(2:13) forms a PAX3-FKHR fusion protein –> an oncogenic transcription factors
What does a somatic mutation in PAX7 create
Alveolar rhabdomyosarcome
t(1;13) produces a similar PAX7-FKHR fusion protein –> but slightly better outcome than for PAX3
What does PAX6 mutations cause in humans
WAGR Wilms Tumour Aniridia Genitourinary Defects Retardation
Pax 6 also thoguht to be the ye gene
4 type of Zn finger genes
TFIIIA
Nuclear Hormone receptors
Retroviral GAG Products
Yeast Transcription Factors
Make up of TFIIIA subclass of Zn finger genes
CC/HH
Make up of nuclear hormone receptor subclass of Zn finger genes
CC/CC
Make up of retroviral GAG products subclass of Zn finger genes
CC/HC
Make up of Yeast trasncription factors subclass of Zn finger genes
6xC
What does mutations in Gli3 Zn finger gene cause
Mice = extra troes Humans = Greigs syndrome: skeletal malformations of hands, feet and cranium
What do mutation in WT1 Zn finger genes cause
WAGR and Drash Syndrome
WT1 is on the same part of chromosome 11 as PAX6 so deletion cgets rid of both of them!
What does POU5F1 encode
Oct4
What does POU1F1 encode
PITI protein –> deficiency causes combined pituitary hormone deficiency
What groups of PAX genes are bad prognosis
II and III
Roles of PAX 3 and 7
Role in stem cell self renewal
Also required for the proper migration and specification of progenitor cells in embyrogenesis neural-crest derived cells
