• 생명과학회지
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• 제33권12호
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• pp.987-994
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• 2023

이 연구는 제주도 한우집단에서 galactose mutarotase (GALM) 유전자형과 도체형질의 연관성을 시험하였다. GALM 유전자형은 3'-비해독부위(3'-UTR)의 14-bp (5'-GGTCTAATGACCAG-3') 삽입/결실 다형성을 이용하였다. 한우 비육우 집단에서 GALM 유전자의 세 가지 유전자형(LL, LS, SS)이 모두 관찰되었다. 연관성 분석결과는 근내지방의 함량과 밀접한 상관을 보이는 육질등급과 근내지방도의 수준과, 등지방두께의 수준이 유전자형에 따른 유의적인 차이를 나타내었다(p<0.05). 동형접합인 SS 유전자형을 보유한 도체에서 LL 또는 LS 유전자형인 도체에 비해 근내지방 함량 수준은 더 높고, 등지방두께도 더 얇은 수준을 보였다. 반면, 도체중, 등심단면적, 육색, 지방색 등은 GALM 유전자형에 따른 유의적인 차이는 없었다(p>0.05). 3'-UTR에서 14-bp 절편의 결실은 RNA의 2차 구조의 변형과 RNA-결합 단백질, microRNA와의 결합능력에 대한 방해를 통해 유전자 발현에 영향을 줄 수 있는 것으로 예측되었다. GALM 유전자의 3'-UTR 영역에서 14-bp 삽입/결실 다형성에 대한 이번 연구결과는 소에서 근육과 등지방 조직에서 galactose 대사에 의한 지방 축적을 통해 성장형질, 도체형질에 영향을 주는 것으로 판단된다.

• 원자력산업
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• 제38권5호
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• pp.54-57
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• 2018

• 대한유전성대사질환학회지
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• 제23권2호
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• pp.15-20
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• 2023

Galactosemia is an inborn error disorder of carbohydrate metabolism, caused by metabolic disturbances at various stages of the Leloir pathway. In patients with galactosemia, accurate diagnosis and appropriate care are essential to avoid complications and unnecessary treatments. And a careful differential diagnosis of the type of galactosemia is crucial. Even with an appropriate galactose-restricted diet, long-term complications may occur, especially in patients with classic galactosemia. So new treatment options are being developed. In this review, we will review the new symptoms of each subtype that have been reported recently and GALM (Galactose mutarotase) deficiency, a new form of galactosemia, and treatment policies according to recent guidelines.

• Journal of Animal Science and Technology
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• 제62권3호
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• pp.293-305
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• 2020

The difference in the breeding programs and population history may have diversely shaped the genomes of Korean native cattle breeds. In the absence of phenotypic data, comparisons of breeds that have been subjected to different selective pressures can aid to identify genomic regions and genes controlling qualitative and complex traits. In this study to decipher genetic variation and identify evidence of divergent selection, 3 Korean cattle breeds were genotyped using the recently developed high-density GeneSeek Genomic Profiler F250 (GGP-F250) array. The three Korean cattle breeds clustered according to their coat color phenotypes and breeding programs. The Heugu breed reliably showed smaller effective population size at all generations considered. Across the autosomal chromosomes, 113 and 83 annotated genes were identified from Hanwoo-Chikso and Hanwoo-Heugu comparisons, respectively of which 16 genes were shared between the two pairwise comparisons. The most important signals of selection were detected on bovine chromosomes 14 (24.39-25.13 Mb) and 18 (13.34-15.07 Mb), containing genes related to body size, and coat color (XKR4, LYN, PLAG1, SDR16C5, TMEM68, CDH15, MC1R, and GALNS). Some of the candidate genes are also associated with meat quality traits (ACSF3, EIF2B1, BANP, APCDD1, and GALM) and harbor quantitative trait locus (QTL) for beef production traits. Further functional analysis revealed that the candidate genes (DBI, ACSF3, HINT2, GBA2, AGPAT5, SCAP, ELP6, APOB, and RBL1) were involved in gene ontology (GO) terms relevant to meat quality including fatty acid oxidation, biosynthesis, and lipid storage. Candidate genes previously known to affect beef production and quality traits could be used in the beef cattle selection strategies.