Abstract Intensive use of a few elite sires has increased the risk of the manifestation of deleterious recessive traits in cattle. Substantial genotyping data gathered using single-nucleotide polymorphism (SNP) arrays have identified the haplotypes with homozygous deficiency, which may compromise survival. We developed Japanese Black cattle haplotypes (JBHs) using SNP array data (4843 individuals) and identified deleterious recessive haplotypes using exome sequencing of 517 sires. We identified seven JBHs with homozygous deficiency. JBH_10 and JBH_17 were associated with the resuming of estrus after artificial insemination, indicating that these haplotypes carried deleterious mutations affecting embryonic survival. The exome data of 517 Japanese Black sires revealed that AC_000165.1:g.85341291C>G of IARS in JBH_8_2, AC_000174.1:g.74743512G>T of CDC45 in JBH_17, and a copy variation region (CNVR_27) of CLDN16 in JBH_1_1 and JBH_1_2 were the candidate mutations. A novel variant AC_000174.1:g.74743512G>T of CDC45 in JBH_17 was located in a splicing donor site at a distance of 5 bp, affecting pre-mRNA splicing. Mating between heterozygotes of JBH_17 indicated that homozygotes carrying the risk allele died around the blastocyst stage. Analysis of frequency of the CDC45 risk allele revealed that its carriers were widespread throughout the tested Japanese Black cattle population. Our approach can effectively manage the inheritance of recessive risk alleles in a breeding population.

10.1038/s41598-021-86225-y

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部位特異的変異解析により明らかとなった,アスコルビン酸特異的膜貫通電子移動における,Zea maysチトクロームb 561 の保存Lys83残基の重要性

Biochemistry (2009)

Nakanishi Nobuyuki Rahman Motiur Yoichi Sakamoto Takigami Tadakazu Kobayashi Kazuo

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Effect of Diet Behavior on Diabetic Control

聖徳栄養短期大学紀要 (1987)

Kazue Suzuki Hisae Shinohara Kazumasa Suzuki Yoichi Sakamoto Junichi Yokoyama

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TWO CASES OF FAMILIAL IDIOPATHIC HYPOPARATHYROIDISM

Nihon Naika Gakkai Zasshi (1982)

Yukiko Ide Takao YOSHIWARA Masatoshi Watanabe Junichi Yokoyama Yoichi Sakamoto

特発性副甲状腺機能低下症の同胞発症例(兄と弟)について報告した.症例1 (兄): 27歳,大工.腰背部の筋肉痛と痙〓発作を主訴に2回の入院.第2回目入院時の血清Ca 2.5mEq/l, P 4.8mg/dl, Ellsworth-Howard試験陽性などより特発性副甲状腺機能低下症と診断した.症例2 (弟): 21歳,電気店勤務.痙〓発作を主訴に入院.兄と同様に血清Ca 2.9mEq/l, P 5.2mg/dl, Ellsworth-Howard試験陽性などより特発性副甲状線機能低下症と診断した.さらに皮膚のCafe-au-lait spotsを伴う広範な色素沈着,二分脊椎がありvon Recklinghausen病の合併と診断した. 2症例とも低Ca血症に伴う痙〓発作と大脳の基底核の石灰化像(CT-scanにて証明)がみられたが,外胚葉系の異常や白内障はなく,心電図の異常所見もなかつた.兄の例では,脳波の異常所見と血清CPKおよびLDHの高値がみられた. 2症例とも, Ca剤と1α-OH vitamin D3の投与により症状消失,検査成績の正常化がみられた.本疾患の病因はいまだ不明であるが,自己免疫異常の関与が考えられている.本症でも,父方の伯母に慢性甲状腺炎がみられた.一方,特発性副甲状腺機能低下症家族内発症例では,遺伝性疾患を合併するという報告が多く,本報告の弟の症例にvon Recklinghausen病の合併がみられた.さらに家族歴から,遺伝形式としては常染色体優性遺伝が疑われた.

Hypoparathyroidism

10.2169/naika.71.818

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Effects of Long Chain Free Fatty Acids on Glucose-Induced Insulin Secretion in the Perfused Rat Pancreas

Hormone and Metabolic Research (1993)

O. Mokuda Yoichi Sakamoto Howard Hu Rika Kawagoe Nobuko Shimizu

10.1055/s-2007-1002185

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Insulin Allergy and Insulin Lipodystrophy Observed in Insulin Therapy and the Usefulness of Highly Purified Insulin

Tōnyōbyō/Tounyoubyou (1981)

Yoichi Sakamoto Shigeru Saito Manabu Narimiya Junichi Yokoyama Naoko Tajima

Lipodystrophy

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Furosemide loading test in a case of homozygous solute carrier family 12, member 1 (SLC12A1) mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle

Animal Science Journal (2017)

Kiyotoshi Hasegawa Shinji Sasaki Yoichi Sakamoto Akifumi Takano Megumi Takayama

Abstract 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.

Penetrance

Heterozygote advantage

Solute carrier family

Compound heterozygosity

10.1111/asj.12789

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Fatty liver and serum cholinesterase are independently correlated with HbA1c levels: Cross-sectional analysis of 5384 people

Journal of International Medical Research (2014)

Shūichi Katoh Markku Peltonen Takashi Wada Mikio Zeniya Yoichi Sakamoto

Objectives: To examine the association between glycosylated haemoglobin (HbA1c) and fatty liver markers. Methods: This cross-sectional analysis stratified subjects into quintiles based on HbA1c. Fatty liver using ultrasonography scores (FLUS) were assigned as follows: 2 points, moderate or severe fatty liver; 1 point, mild fatty liver; and 0 points, normal liver. Subjects with viral hepatitis, alcohol intake >175 g/week or receiving hypoglycaemic treatment were excluded. Results: The study included 5384 subjects. Serum cholinesterase (ChE) and FLUS showed a significant graded increase with increasing HbA1c. In linear regression analysis stratified by body mass index (BMI) and age, ChE and FLUS were significantly associated with lower (1 + 2) and higher (3 + 4 + 5) HbA1c quintiles, respectively, independent of BMI and age. Conclusions: The findings show that both ChE and FLUS are significantly correlated with HbA1c, independent of BMI and age.

Cross-sectional study

Cholinesterase

10.1177/0300060513517485

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