what r the HOX13 question? - capsule

[ArchivalUser]

any one can tell me what r HOX question?do u have any link?

[ArchivalUser]

summary-

HOX A1- inner ear malformations
(HOX A-1 overexpression- up regulation of bcl-2 (anti-apoptotic factor)

HOX A2: transformation of the pharyngeal arch 2 into the pharyngeal arch 1 with duplication of the malleus and the incus.

HOX B2: facial nerve palsy, motor nucleus deficiency of cranial nerve of pharyngeal arch 2

HOX A13 causes hand foot and genital syndrome: malformation of the thumb and great toe, bicornuate uterus, ectopic ureter openings and hypospadias.

Vertebral
Mutation of HOX C8 : A null mutation of HOX C-8 lead to transformation of the first lumbar vertebra into a 14th thoracic vertebra, and the eight rib became attached to the sternum.

Mutation of HOX 10 - no lumbar vertebrae are formed. Instead, ribs project from all posterior vertebrae, extending caudally from the last thoracic vertebrae to beyond the sacral region.

Mutation of HOX11 - sacral vertebrae are not formed and instead these vertebrae assume a lumbar identity

HOX-D 13 : is associated with synpolydactyly (fusion of fingers or toes)
SHH-Polydactyly
BMP-Syndactyly

Hox A-9 : AML
Hox-11 : T-cell ALL

PAX3 “ necessary for correct formation of caudal neural crest derivatives and migration of myoblasts into the limbs
Mutation causing loss of function- Waardenburg syndrome - a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
Mutation causing gain of function- Alveolar Rhabdomyosarcomas:-Fusion of PAX-3 with FKHR gene (another transcription factor)

PIT-1 “ -( Pituitary-specific transcription factor ) Mutation cause Combined Pit hormone deficiency

Pbx-1: Pre-B cell ALL

GBX and NKX 3.1: Prostrate CA



PAX 6 - aniridia in humans, misplaced eye in Drosophila

TCOF 1 - Treacher Collins syndrome

SOX 10 “ Hirschsprung disease

HOX A-9, 10, 11 - epithelial ovarian cancer
HOX B-5 congenital lung abnormality

[ArchivalUser]

Is that all ? Where is this topic given? Where did you read this from? Thanks alot for providing the list. May god bless u.

[ArchivalUser]

HOX genes share a common domain which is the HOMEODOMAIN, as a result, the HOX genes are referred to as homeotic genes. There are 11 HOXA genes, and 9 HOXB, HOXC, and HOXD genes; or a total of 38 HOX genes - 39 HOX genes. The DNA sequence that codes the homeodomain is a highly conserved 180-base pair sequence termed the HOMEOBOX. The homeodomain is a helix-turn-helix structural motif that is common to DNA binding proteins, such as transcription factors.

http://www.users.zetnet.co.uk/jil/ums/um...(1)023.pdf

I hope it helps

[ArchivalUser]

Hey inspiron and drbilan,
ireally appreciate u r help!!
Thanks and GL

[ArchivalUser]

Thanks alot for ur help.May god bless u.