Mechanisms and Dynamics of Heterochromatin Formation During Mammalian Development: Closed Paths and Open Questions - Current Topics in Developmental Biology - page 9

Table 1.1 Embryonic phenotypes of the knock-outs of proteins and complexes involved in heterochromatin establishment and/or
maintenance
Methyltransferase Domain(s) Function(s) Location Knockout Phenotype References

G9a SET ( S uv3-9,

E (z)h, T rx)

Catalyzes
H3K9me1/2

Euchromatin Embryo

(full KO)

Lethal between E9.5 and
E12.5. Developmental
abnormalities.

Tachibana et al.
(2002)

ANK repeats Binds

H3K9me1/2

Reduction in
H3K9me1/2

Germ line
(conditional
KO)

Defects in meiotic
prophase progression and
gametogenesis.

Tachibana,
Nozaki, Takeda,
and Shinkai (2007)

ES
(full KO)

Altered DNA
methylation in the
Prader-Willi imprinted
region.

ESET SET Catalyzes

H3K9me3

Euchromatin Embryo

(full KO)

KO of the SET domain:
lethality at peri-
implantation. Defects in
ICM formation

Dodge, Kang,
Beppu, Lei, and
Li (2004)

MBD (methyl-
CpG-binding
domain)

Binds
methylated
DNA

Tudor Recognizes

arginine,
H4K20
methylation

Continued