Table 1.
Name | Effect on variegation | Gene | Nature of mutation | Homozygous phenotype | References | Human homolog | Disease association |
---|---|---|---|---|---|---|---|
MommeD1 |
Suppressor |
Smchd1 |
C->T exon 23; introduces Stop |
Null |
[5,11] |
SMCHD1 |
FSHD2 [14] |
MommeD2 |
Suppressor |
Dnmt1 |
C->A exon 25; T812K |
Null |
[6] |
DNMT1 |
Schizophrenia, breast and prostate cancer [15-19] |
MommeD4 |
Enhancer |
Smarca5 |
T->A exon 12; W520R |
Hypomorphic? |
[5,6] |
SMARCA5 |
Acute myeloid leukemia [20] |
MommeD5 |
Enhancer |
Hdac1 |
7 bp deletion in exon 13; Frameshift |
Null |
[5,7] |
HDAC1 |
Schizophrenia, neural development [2] |
MommeD8 |
Enhancer |
Rlf |
G->T exon 8; C1558F |
Hypomorphic |
This study |
RLF |
|
MommeD9 |
Enhancer |
Trim28 |
T->C splice donor site of intron 13 |
Null |
[8] |
TRIM28 |
|
MommeD10 |
Enhancer |
Baz1b |
T->G exon 7; L733R |
Hypomorphic |
[7] |
BAZ1B |
Williams-Beuren syndrome [21] |
MommeD12 |
Enhancer |
eIF3h |
T->A - 10 bp before splice acceptor site of intron 4 |
Null |
[9] |
eIF3H |
|
MommeD13 |
Suppressor |
Setdb1 |
A->G exon 20; results in splicing defect |
Null |
This study |
SETDB1 |
Melanoma [22] |
MommeD14 |
Suppressor |
Dnmt3b |
T->C splice acceptor site of intron 12 |
Hypomorphic |
[10] |
DNMT3B |
ICF syndrome [23] |
MommeD16 |
Enhancer |
Baz1b |
T->C exon 2; L75P |
Hypomorphic? |
This study |
BAZ1B |
Williams-Beuren syndrome [21] |
MommeD17 |
Suppressor |
Setdb1 |
T->C exon 21; V1248A |
Hypomorphic |
This study |
SETDB1 |
Melanoma [22] |
MommeD18 |
Suppressor |
Rif1 |
C->T exon 29; Q1669 Stop |
Null |
This study |
RIF1 |
Breast cancer [24] |
MommeD19 |
Suppressor |
Smarcc1 |
T->G splice acceptor site of intron 10 |
Null |
This study |
SMARCC1 |
Colorectal cancer [25,26] |
MommeD23 |
Suppressor |
Smchd1 |
A->T exon 12; R498 Stop |
Null? |
This study |
SMCHD1 |
FSHD2 [14] |
MommeD27 |
Suppressor |
Pbrm1 |
A->G exon 17; Y733C |
Hypomorphic? |
This study |
PBRM1 |
Renal cancer [27] |
MommeD28 |
Enhancer |
Rlf |
A->G splice acceptor site of intron 4 |
Null |
This study |
RLF |
|
MommeD30 |
Enhancer |
Wiz |
1 bp deletion in exon 5; Frameshift at amino acid 553 |
Null |
This study |
WIZ |
|
MommeD31 |
Enhancer |
Trim 28 |
T->A exon 3; C178S |
Null? |
This study |
TRIM28 |
|
MommeD32 |
Suppressor |
Dnmt1 |
T->C exon 29; L1045P |
Null? |
This study |
DNMT1 |
Schizophrenia, breast and prostate cancer [15-19] |
MommeD33 |
Suppressor |
Suv39h1 |
A->G splice donor site of intron 1 |
Null |
This study |
SUV39H1 |
Lupus, retinoblastoma [2] |
MommeD34 |
Enhancer |
Rlf |
C->A exon 7; C355 Stop |
Null |
This study |
RLF |
|
MommeD35 |
Enhancer |
Smarca5 |
A-> G exon 9; N341S |
Hypomorphic? |
This study |
SMARCA5 |
Acute myeloid leukemia [20] |
MommeD36 |
Suppressor |
Smchd1 |
C->T exon 42; Q1732 Stop |
Null? |
This study |
SMCHD1 |
FSHD2 [14] |
MommeD37 |
Enhancer |
Smarca5 |
T->C exon 13; L565P |
Null? |
This study |
SMARCA5 |
Acute myeloid leukemia [20] |
MommeD38 |
Enhancer |
eIF3h |
G->A exon 7; R291 Stop |
Null |
[9] |
eIF3H |
|
MommeD39 |
Suppressor |
Smarca4 |
G->A splice donor site of intron 20 |
Null |
This study |
SMARCA4 |
Coffin-Siris syndrome [28] |
MommeD40 |
Suppressor |
Uhrf1 |
T->A exon17; Y778 Stop |
Null |
This study |
UHRF1 |
|
MommeD42 | Enhancer | Brd1 | T->A exon 11; C411 Stop | Null | This study | BRD1 | Schizophrenia, bipolar affective disorder [29] |
In some cases the mutation can be defined as hypomorphic or null and in other cases this designation is less certain and we have added a question mark.