Table 2. Comparison of missense, nonsense, and frameshift variants in the coding sequences of ovine GDF9, BMP15, BMPR1B and their phenotypic association in sheep.
Gene
(Chr.) |
Coding
variant a |
Phenotype | Breed groups | Ref. |
---|---|---|---|---|
GDF9
(Chr5) |
R87H | None reported | Multiple | 37, this work |
E241K | None reported | Multiple | 37, 38, this work | |
R315C | Fecundity, Vacaria, FecG V | Ile de France | 39 | |
V332I | None reported | Multiple | 37, 38, this work | |
F345C | Fecundity, Embrapa, FecG E | Santa Inês | 40 | |
V371M | Fecundity | Finnish landrace | 11, 26, 37, this work | |
S395F | Fecundity, High Fertility, FecG H | Belclare, Cambridge | 37 | |
S427R | Fecundity, Thoka, FecT T | Icelandic | 41 | |
BMP15
(ChrX) |
L11ΔL | None reported | Multiple | 37, this work |
R67Q | Unknown, Dorset | Dorset | This work | |
W154Δ17 | Fecundity, Rasa Aragonesa,
FecX R |
Rasa Aragonesa | 42, 43 | |
Q239stop | Fecundity, Galway, FecX G | Belclare, Cambridge | 37 | |
L252P | Unknown, Dorper | Dorper | This work | |
Q291stop | Fecundity, Hanna, FecX H | Romney | 44 | |
V299D | Fecundity, Inverdale, FecX I | Romney | 44 | |
T317I | Fecundity, Grivette, FecX GR | Grivette | 45 | |
C321Y | Fecundity, Lacaune, FecX L | Lacaune | 46 | |
N337H | Fecundity, Olkuska, FecX O | Olkuska | 45 | |
S367I | Fecundity, Belclare, FecX B | Belclare | 37 | |
BMPR1B
(Chr6) |
M64I | Unknown, Katahdin | Katahdin | This work |
Q249R | Fecundity Booroola, FecB B | Booroola, et al. | 14, 29, 33, 47 | |
T345N | Unknown, Romanov | Romanov | This work |
aBold font indicates previously unreported variants affecting the protein sequence.