DEVELOPMENTAL

DISTURBANCES BY
HOMEOBOX GENES
MUTATION
By Neethu Jayakumar & Preethi Poulose

HOMEOBOX GENES
Homeobox genes are DNA sequence of

about 180 base pairs long

They are involved in the regulation of
development (morphogenesis) of
plants,animals & fungus.
The proteins encrypted (homeodomain
proteins) are about 60 amino acids long
& are transcription factors.
They were first studied in Drosophila
melanogaster as they have nearly same
genetic constitution as that of humans.
Humans generally contain Hox genes in
Name
chromosome
four clusters
:
HOXA (or
sometimes HOX1) HOXA@

chromosome 7

HOXB - HOXB@

chromosome 17

HOXC - HOXC@

chromosome 12

HOXD - HOXD@

chromosome 2

TYPES OF HOMEOBOX GENES

HOMEOBOX
GENES

FUNCTIONS

MUTATION
DEFECTS

PAX-9 gene

Trigger cellular
differentiation

Non-syndromic tooth
agenesis

MSX gene (Human

MSX genes-MSX-1
and MSX-2)

Regulate
epithelialmesenchymal
signalling in
cranio-facial
development.

Cleft secondary
palate, arrested teeth
development ,skull,
jaw& middle ear
defects

Expressed in
DLX (Distal less)
genes (six members epithelium
ie; DLX 1-6)
&mesenchyme of
branchial arches,
tooth bud,dental
lamina, cranial
neural crest,

Abnormalities
affecting first four
branchial arch
derivatives including
mandible and
calvaria, failure of
development of upper

HOMEOBOX
GENES

FUNCTIONS

MUTATION
DEFECTS

Lim gene(LHX -1 and

LMX 1-b)

Expressed in
neural crest
derived
ectomesenchyme
of first branchial
arch.

Abnormal
development of
first arch
derivatives,tooth
agenesis&cleft
palate

BARX gene

Expressed in
brain, spinalcord,
cranial&dorsal root
ganglia,craniofacia
l structures

Failure of nervous
system to
develop, cleft
palate formation

RUNX 2 genes (Runt

related protein)

A key regulator of
osteoblast
differentiation&
bone formation.

Tooth Agenesis
(Non-Syndromic
and Syndromic)