Premium
Furosemide loading test in a case of homozygous solute carrier family 12, member 1 ( SLC 12A1 ) mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle
Author(s) -
Hasegawa Kiyotoshi,
Sasaki Shinji,
Sakamoto Yoichi,
Takano Akifumi,
Takayama Megumi,
Higashi Tomoko,
Sugimoto Yoshikazu,
Yasuda Yasuaki
Publication year - 2017
Publication title -
animal science journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.606
H-Index - 38
eISSN - 1740-0929
pISSN - 1344-3941
DOI - 10.1111/asj.12789
Subject(s) - missense mutation , furosemide , penetrance , genotype , mutation , allele , heterozygote advantage , biology , solute carrier family , compound heterozygosity , endocrinology , medicine , genetics , gene , microbiology and biotechnology , transporter , phenotype
Hydrallantois is the excessive accumulation of fluid in the allantoic cavity in a pregnant animal and is associated with fetal death. We recently identified a recessive missense mutation in the solute carrier family 12, member 1 ( SLC 12A1 ) gene (g.62382825G>A, p.Pro372Leu) that is associated with hydrallantois in Japanese Black cattle. Unexpectedly, we found a case of the homozygous risk‐allele for SLC 12A1 in a calf, using a PCR ‐based direct DNA sequencing test. The homozygote was outwardly healthy up to 3 months of age and the mother did not exhibit any clinical symptoms of hydrallantois. In order to validate these observations, we performed confirmation tests for the genotype and a diuretic loading test using furosemide, which inhibits the transporter activity of the SLC 12A1 protein. The results showed that the calf was really homozygous for the risk‐allele. In the homozygous calf, administration of furosemide did not alter urinary Na + or Cl − levels, in contrast to the heterozygote and wild‐type calves in which these were significantly increased. These results demonstrate that the SLC 12A1 (g.62382825G>A, p.Pro372Leu) is a hypomorphic or loss‐of‐function mutation and the hydrallantois with this mutation shows incomplete penetrance in Japanese Black cattle.