Table 1.
List of candidate genes involved in Müllerian development and/or resulting in uterine aplasia in (A) mouse orthologs, (B) humans, and (C) genes near the breakpoint of the t(3;16) translocation identified in an MRKH patient
| (A) | ||
|---|---|---|
| Genes in mouse orthologs | Author | PMID |
| Ctnnb* | Arango et al. (2005) | 16,256,976 |
| Dach1 | Davis et al. (2008) | 18,395,837 |
| Dach2 | Davis et al. (2008) | 18,395,837 |
| Emx2* | Miyamoto et al. (1997) | 9,165,114 |
| Hnf1b* | Bingham et al. (2002) | 11,918,730 |
| Hoxa10* | Satokata et al. (1995) | 8,532,869 |
| Hoxa11 | Satokata et al. (1995) | 8,532,869 |
| Hoxa13* | Warot et a. (1997) | 9,428,414 |
| Hoxa7* | Burel et al. (2006) | 1,444,933 |
| Hoxa9 | Burel et al. (2006) | 1,444,933 |
| Lamc1* | Willem et al. (2002) | 12,015,298 |
| Lhx1* | Kobayashi et al. (2004) | 14,695,376 |
| Pax2* | Kobayashi et al. (2004) | 14,695,376 |
| Pbx1* | Massé et al. (2009) | 19,412,895 |
| Rara | Mendelsohn et al. (1994) | 7,607,068 |
| Rarb | Mendelsohn et al. (1994) | 7,607,068 |
| Rarg* | Mendelsohn et al. (1994) | 7,607,068 |
| Rxra | Mendelsohn et al. (1994) | 7,607,068 |
| Rxrg | Mendelsohn et al. (1994) | 7,607,068 |
| Wnt4* | Vainio et al. (1999) | 9,989,404 |
| Wnt7a* | Miller et al. (1998) | 9,767,131 |
| Wnt9b* | Carroll et al. (2005) | 16,054,034 |
| Wnt5a | Mericskay et al. (2004) | 15,073,149 |
|
| ||
| (B) | ||
| Human genes | Author | PMID |
|
| ||
| BAMH | Resendes et al. (2001) | 11,223,848 |
| AMHR | Resendes et al. (2001) | 11,223,848 |
| CFTR | Timmreck et al. (2003) | 12,794,695 |
| CTNNB1* | Drummond et al. (2008) | 18,979,915 |
| DERL2 | Ledig et al. (2017) | 29,068,465 |
| DOCK4 | Ledig et al. (2017) | 29,068,465 |
| DLGH1 | Ravel et al. (2012) | 22,377,151 |
| EMX2* | Liu et al. (2015) | 25,577,462 |
| ESR1 | Brucker et al. (2017) | 28,815,558 |
| GALT | Klipstein et al. (2003) | 12,606,594 |
| HNF1B* | Lindner et al. (1999) | 10,484,768 |
| HNRNPCL1 | Chen et al. (2015) | 25,924,657 |
| HOXA10* | Lalwani et al. (2008) | 17,482,600 |
| HOXA13* | Burel et al. (2006) | 16,556,301 |
| HOXA7* | Guerrier et al. (2006 | 16,441,882 |
| ITIH5 | Morcel et al. (2011) | 23,141,121 |
| LAMC1* | Ravel et al. (2012) | 22,377,151 |
| LHX1* | Cheroki et al. (2008) | 18,039,948 |
| LRP10 | Rall et al. (2015) | 25,492,683 |
| MMP14 | Rall et al. (2015) | 25,492,683 |
| MSL3 | Ledig et al. (2017) | 29,068,465 |
| NAALADL2 | Ledig et al. (2017) | 29,068,465 |
| OR2T2 | Chen et al. (2015) | 25,924,657 |
| OR4M2 | Chen et al. (2015) | 25,924,657 |
| OXTR | Brucker et al. (2017) | 28,815,558 |
| PAX2* | Wang et al. (2012) | 22,683,154 |
| PAX8 | Ma et al. (2014) | 25,484,916 |
| PBX1* | Burel et al. (2006) | 16,556,301 |
| PDE11A | Chen et al. (2015) | 25,924,657 |
| PLCH1 | Ledig et al. (2017) | 29,068,465 |
| RARG* | Cheroki et al. (2006 | 16,691,591 |
| RBM8A | Cheroki et al. (2008) | 18,039,948 |
| RSPO4 | Ledig et al. (2017) | 29,068,465 |
| SHOX | Gervasini et al. (2010) | 20,847,698 |
| SNAP29 | Ledig et al. (2017) | 29,068,465 |
| TBX6 | Sandbacka et al. (2011) | 23,954,021 |
| WNT4* | Biason-Lauber et al. (2004) | 15,317,892 |
| WNT7A* | Timmreck et al. (2003) | 12,794,695 |
| WNT9B* | Wang et al. (2014) | 24,581,601 |
| WT1 | Van Lingen et al. (1998) | 9,757,958 |
| ZNF277 | Ledig et al. (2017) | 29,068,465 |
| ZNF816 | Chen et al. (2015) | 25,924,657 |
|
| ||
| (C) | ||
| t(3;16) Genes | Author | PMID |
|
| ||
| CASP16P | Williams et al. (2016) | 27,478,502 |
| CCR4 | Williams et al. (2016) | 27,478,502 |
| CMTM6 | Williams et al. (2016) | 27,478,502 |
| CMTM7 | Williams et al. (2016) | 27,478,502 |
| CMTM8 | Williams et al. (2016) | 27,478,502 |
| CNOT10 | Williams et al. (2016) | 27,478,502 |
| CRTAP | Williams et al. (2016) | 27,478,502 |
| DYNC111 | Williams et al. (2016) | 27,478,502 |
| GLB1 | Williams et al. (2016) | 27,478,502 |
| IL32 | Williams et al. (2016) | 27,478,502 |
| MEFV | Williams et al. (2016) | 27,478,502 |
| OR1F1 | Williams et al. (2016) | 27,478,502 |
| TIGD7 | Williams et al. (2016) | 27,478,502 |
| TMPPE | Williams et al. (2016) | 27,478,502 |
| TRIM71 | Williams et al. (2016) | 27,478,502 |
| ZNF200 | Williams et al. (2016) | 27,478,502 |
| ZNF205 | Williams et al. (2016) | 27,478,502 |
| ZNF213 | Williams et al. (2016) | 27,478,502 |
| ZNF263 | Williams et al. (2016) | 27,478,502 |
| ZNF75A | Williams et al. (2016) | 27,478,502 |
| ZSCAN10 | Williams et al. (2016) | 27,478,502 |
It should be noted that 14 genes, indicated by an asterisk, are common to mouse and human. Note that WNT4 and HNF1B have been shown to be causative for MRKH by functional analysis.