• Journal of Animal Science and Technology
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• 제63권4호
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• pp.751-758
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• 2021

The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino c^a, and red-eyed white c^re) and causative mutations in the tyrosinase (TYR) gene. The recessive white mutation (c) inhibits the transcription of TYR exon 5 due to a retroviral sequence insertion in intron 4. In this study, we genotyped and sequenced the insertion in TYR intron 4 to identify the mutation causing the unusual white plumage of Yeonsan Ogye chickens, which normally have black plumage. The white chickens had a homozygous recessive white genotype that matched the sequence of the recessive white type, and the inserted sequence exhibited 98% identity with the avian leukosis virus ev-1 sequence. In comparison, brindle and normal chickens had the homozygous color genotype, and their sequences were the same as the wild-type sequence, indicating that this phenotype is derived from other mutation(s). In conclusion, white chickens have a recessive white mutation allele. Since the size of the sample used in this study was limited, further research through securing additional samples to perform validation studies is necessary. Therefore, after validation studies, a selection system for conserving the phenotypic characteristics and genetic diversity of the population could be established if additional studies to elucidate specific phenotype-related genes in Yeonsan Ogye are performed.

• Childhood Kidney Diseases
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• 제25권1호
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• pp.29-34
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• 2021

C3 glomerulonephritis (C3GN), a rare condition associated with dysregulation of the alternative pathway of the complement system, is histopathologically characterized by isolated or dominant C3 deposition in the renal glomeruli. We report a case of C3GN associated with anti-complement factor H (CFH) autoantibodies and CHF-related protein deficiency in an adolescent male. A 16-year-old adolescent male was admitted to a hospital with a 1-month history of generalized edema prior to presentation. Persistent microscopic hematuria and low serum C3 levels were incidentally detected at 7 and 10 years of age, respectively. Laboratory test results revealed hypoalbuminemia, nephrotic-range proteinuria, microscopic hematuria, and normal serum creatinine levels. The serum C3 and C4 levels were 17 mg/dL (normal 80-150 mg/dL) and 22 mg/mL (17-40 mg/mL), respectively. Renal biopsy showed typical features of C3GN. Further investigations revealed positive results on plasma anti-CFH autoantibody testing and a homozygous deletion of CFHR1 and CFHR3, which encode CFH-related proteins 1 and 3, respectively. Proteinuria persisted despite treatment with intravenous methylprednisolone, mycophenolate mofetil, and angiotensin-receptor blocker; however, his renal function remained stable. In conclusion, anti-CFH autoantibodies serve as important contributors to C3GN. This is the first case report that describes C3GN in an adolescent Korean male with anti-CFH autoantibodies and homozygous CFHR1 and CFHR3 deletion.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제25권6호
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• pp.441-452
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• 2022

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.

• 대한의생명과학회지
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• 제11권4호
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• pp.421-427
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• 2005

To evaluate the diagnostic significance of p16 overexpression in human hepatocellular carcinoma (HCC), we analyzed p16 status and growth inhibitory patterns by p16 overexpression in HCC cell lines having different pRE status. SKHep1 and SNU449 cells show homozygous deletion of p16. The p16 gene in SNU398 cell is inactivated at posttranscription level. Adenovira1-p16 (Ad-p16) infection inhibits the cell growth in Hep3B, SNU398, and SNU449. Failure of growth inhibition in SKHepl results from the low transduction efficiency of adenovirus. The p16-mediated growth inhibition shows G 1 phase arrest in pRE-positive SNU449 but not in pRE-negative Hep3B. These results suggest that therapeutic efficacy of p16 gene might be considered on the transduction efficiency and the toxicity of adenoviral vector. Beside, growth inhibitory effect of p16 could be exerted through either pRE-dependent or -independent pathway.

• International Journal of Industrial Entomology and Biomaterials
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• 제13권1호
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• pp.1-5
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• 2006

The major dominant fluoride-endurance (Dfe) gene was introduced into the commercial varieties by crossing and pedigree selection to breed silkworm races that could normally develop in the area that polluted by fluoride. After backcrossed for two generations, the Dfe gene was made homozygous, and individuals with good economic characters were selected to generate next generation. After 8 generations of selection, their characters became stable, and the silkworm variety which is resistant to fluoride, Huayuan${\times}$Dongsheng, for spring rearing were bred.

• International Journal of Industrial Entomology and Biomaterials
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• 제18권2호
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• pp.131-134
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• 2009

The purpose of this study was to establish whether there are differences in the productivity of the same silkworm(Bombyx mori L.) parthenoclones, obtained by two different methods-thermal and combined, as well as to study their genotype structure by several enzyme loci. It was established that all individuals of parthenoclones Joana, Joana(${\downarrow}{\uparrow}$), Pohi and Pohi(${\downarrow}{\uparrow}$), are homozygous by the studied esterase and phosphoglucomutase loci, which substantiated the clones' genetic stability. By comparative analysis of some biological and technological properties, it was found that parthenoclone Pohi(${\downarrow}{\uparrow}$) obtained by low-high temperature activation is characterized by higher values of these properties as compared to parthenoclone Pohi obtained by thermal parthenogenesis. Comparing the two methods of inducing ameiotic parthenogenetic development, we would recommend that parthenoclone Joana is sustained by thermal parthenogenesis, and parthenoclone Pohi-by the combined method (low-high temperature).

• 대한의생명과학회지
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• 제14권2호
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• pp.123-126
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• 2008

Long QT Syndrome (LQT) is a congenital disease due to the failure of electrical system of the heart. We have analyzed KCNE1 gene which is known to be the cause of Type V LQT in Korean genome. Although SNPs of KCNE1 have been reported for Chinese and Malaysians no data are available for Korean people yet. PCR primers were prepared to investigate the sequences for normal and SNP at G30A, G112A, C162T. They were different only by 3' ends. Genomic DNAs were extracted from the people who were known to be normal clinically (35) or patients (20) with metabolic disease. As results, we were able to recognize several SNPs in these Korean samples. Some people were homozygous or heterozygous depending upon the type of SNP. This study should facilitate the research on the cause of Type VLQTs and to develop the further therapy at genetic level.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.40-42
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• 2016

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

• 한국동물학회지
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• 제22권1호
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• pp.26-38
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• 1979

In recent years some very substantial advances have been made in our understanding of oogenesis as a result of studies on a relatively few, very diverse species of animals. In this lecture I will (1) outline normal oogenesis using an advanced insect, Drosophila melanogaster, as an example, (2) show how oogenesis can be dissected genetically by studying the ovarian pathologies of flies homozygous for various recessive, female sterile genes, and (3) discuss how estimates can be made of the fraction of the Drosophila genome devoted to oogenesis. Then I will describe studies on mutations that block vitello-genesis in Drosophila and indicate what they tell us about inter actions between the ovary, the fat body and the endocrine system. I will next discuss the evolutionary mechanisms that have been adopted in higher insects and amphibians to produce the prodigious quantities of ribosomes stored in oocytes. I will end with an account of the results of recent stuides on amphibian lampbrush chromosomes which show how messenger RNAs are transcribed during oogenesis.

• International Journal of Industrial Entomology and Biomaterials
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• 제10권1호
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• pp.1-10
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• 2005

Parthenogenesis in mulberry silkworm, Bombyx mori L. acquires immense use in the development of outstanding homozygous lines with higher viability, hybrid vigour, combining ability and less phenotypic variability. It can serve as a powerful tool in controlling sex of the offsprings as well as a useful tool in selection. In fact India is the second largest silk producing country in the world next only to China and all the five types of natural silks viz., mulberry, oak tasar, tropical tasar, muga and eri are produced in India. However, little information is available on the role of artificial parthenogenesis in the development of superior silkworm breeds. This paper overviews some important studies carried out on artificial parthenogenesis, and outline of different types of parthenogenesis, methods of induction of artificial parthenogenesis, factors responsible for successful parthenogenetic development, cytogenetics of artificial parthenogenesis and role of artificial parthenogenesis in silkworm breeding. Besides, an attempt is made to describe briefly about parthenogenetic engineering which includes cloning in silkworm, artificial insemination, chimeras, hybridization, chromosomal substitution and recombinant DNA in silkworm.