• Asian-Australasian Journal of Animal Sciences
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• v.15 no.2
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• pp.179-183
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• 2002

The fragment in intron I of FSH-${\beta}$ gene was amplified by PCR. According to the polymorphism, we analyzed the distribution of FSH-${\beta}$ retroposon in different pig breeds; its inheritance pattern in Large White${\times}$Meishan reference family; and the association of FSH-${\beta}$ retroposon with litter size, female reproductive organs measurement, ultrasonic backfat and other traits. The results showed that almost each Chinese indigenous pig had the retroposon, while foreign pig breeds rarely had; the frequencies of porcine FSH-${\beta}$ retroposon were strongly associated with breeds (p<0.01); the pattern of inheritance was consistent with Mendelian fashion; total number born (TNB) and number born alive (NBA) were increased per FSH-${\beta}$ retroposon (p<0.01) with additive effects of 1.2-1.8 and 1.4-1.8 pigs/litter, respectively; between the FSH-${\beta}$ retroposon carriers and non-carriers, there was an insignificant difference in the measurement of female reproductive organs, body weight at birth, backfat thickness, loin meat height, lean meat percentage, teat number, days to 100 kg, and average daily gain.

• Korean Journal of Animal Reproduction
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• v.14 no.3
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• pp.191-197
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• 1990

The transgenic mice were produced by microinjection of human growth hormone gene fused with mouse metallothionein Ⅰ promoter. They were mated with momal mice by backcross or brother-sister mating. The reproduction efficiencies of female and male n the FO transgenic mice were 17.6%(3/17 mice) and 31.2%(5/16 mice), respectively, and were very lower than that in normal mice(85.7% and 100%, respectively). Interestingly, a few of female transgenic mice were fertile which was different from the previous reports. Of 6 fertile transgenic mice, 2 mice were identified as mosaic type by the reduced frequency of genetic transmission to successive generation below Mendelian levle and the enhanced copy numbers of transgene in progeny mice compared with the transgenic parent. In the group of F1, F2, F3 transgenic mice the reproduction efficiencies of males were gradually improved, whereas females were absolutely infertile. It was consequently shown that the transgenic mice expressing human growth hormone gene were frequently infertile, but the genotypic and phenotypic characteristics of the fertile transgenic mice were normally passed on to the progeny through herm line. Therefore it must be considered wheter or not the products of foreign DNA introduced into animals will detrimentally affect their physiological aspects.

• Journal of Crop Science and Biotechnology
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• v.10 no.4
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• pp.277-280
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• 2007

Pepper fruit anthracnose, caused by Colletotrichum acutatum, results in serious yield loss and affects crop quality in many Asian countries, making it a disease of economic consequence. A source resistant to C. acutatum was identified by the AVRDC within the line Capsicum chinense Jacq. PBC932. The resistant breeding line C. annuum AR is the $BC_3F_6$ generation derived from C. chinense Jacq. PBC932. The inheritance of resistance to C. acutatum was analyzed in segregating populations derived from the two crosses HN 11$\times$AR and Daepoong-cho$\times$AR. Detached mature green fruits were inoculated using microinjection method. The disease response was evaluated as the disease incidence at 7 DAI. The segregation ratios of resistance and susceptibility to C. acutatum in the $F_2$ and $BC_R$ populations derived from the two crosses fit significantly to a 1:3 Mendelian model. This indicates that the resistance of AR to C. acutatum is controlled by a single recessive gene.

• Mycobiology
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• v.39 no.4
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• pp.235-242
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• 2011

In contrast to the nuclear genome, the mitochondrial genome does not follow Mendelian laws of inheritance. The nuclear genome of meiotic progeny comes from the recombination of both parental genomes, whereas the meiotic progeny could inherit mitochondria from one, the other, or both parents. In fact, one fascinating phenomenon is that mitochondrial DNA in the majority of eukaryotes is inherited from only one particular parent. Typically, such unidirectional and uniparental inheritance of mitochondrial DNA can be explained by the size of the gametes involved in mating, with the larger gamete contributing towards mitochondrial DNA inheritance. However, in the human fungal pathogen Cryptococcus neoformans, bisexual mating involves the fusion of two isogamous cells of mating type (MAT) a and MAT${\alpha}$, yet the mitochondrial DNA is inherited predominantly from the MATa parent. Although the exact mechanism underlying such uniparental mitochondrial inheritance in this fungus is still unclear, various hypotheses have been proposed. Elucidating the mechanism of mitochondrial inheritance in this clinically important and genetically amenable eukaryotic microbe will yield insights into general mechanisms that are likely conserved in higher eukaryotes. In this review, we highlight studies on Cryptococcus mitochondrial inheritance and point out some important questions that need to be addressed in the future.

• Molecules and Cells
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• v.20 no.2
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• pp.201-209
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• 2005

We have constructed an AFLP-based linkage map of Japanese red pine (Pinus densiflora Siebold et Zucc.) using haploid DNA samples of 96 megagametophytes from a single maternal tree, selection clone Kyungbuk 4. Twenty-eight primer pairs generated a total of 5,780 AFLP fragments. Five hundreds and thirteen fragments were verified as genetic markers with two alleles by their Mendelian segregation. At the linkage criteria LOD 4.0 and maximum recombination fraction 0.25(${\theta}$), a total of 152 markers constituted 25 framework maps for 19 major linkage groups. The maps spanned a total length of 2,341 cM with an average framework marker spacing of 18.4 cM. The estimated genome size was 2,662 cM. With an assumption of equal marker density, 82.2% of the estimated genome would be within 10 cM of one of the 230 linked markers, and 68.1% would be within 10 cM of one of the 152 framework markers. We evaluated map completeness in terms of LOD value, marker density, genome length, and map coverage. The resulting map will provide crucial information for future genomic studies of the Japanese red pine, in particular for QTL mapping of economically important breeding target traits.

• Molecules and Cells
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• v.21 no.2
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• pp.269-275
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• 2006

A recent report of the Korean Intellectual Property Office(KIPO) showed that the number of biological sequence-based patents is rapidly increasing in Korea. We present biological features of Korean patented sequences though bioinformatic analysis. The analysis is divided into two steps. The first is an annotation step in which the patented sequences were annotated with the Reference Sequence (RefSeq) database. The second is an association step in which the patented sequences were linked to genes, diseases, pathway, and biological functions. We used Entrez Gene, Online Mendelian Inheritance in Man (OMIM), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Ontology (GO) databases. Through the association analysis, we found that nearly 2.6% of human genes were associated with Korean patenting, compared to 20% of human genes in the U.S. patent. The association between the biological functions and the patented sequences indicated that genes whose products act as hormones on defense responses in the extra-cellular environments were the most highly targeted for patenting. The analysis data are available at http://www.patome.net

• International Journal of Industrial Entomology and Biomaterials
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• v.3 no.2
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• pp.187-190
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• 2001

Inheritance pattern of resistance to Bombyx mori nuclear polyhedrosis virus (BmNPV) was studied in an Indian silkworm stock TX by single back-cross test method. The resistant parent ［TX］, susceptible parent ［HM］, their Fl, F2, and Fl progeny back-crossed to TX [BC(R)] and HM [BC(S)] were inoculated per os with a fixed concentration of BmNPV($0.5{\times}10^{th} PIB/ml$) on the first day of second stadium. The cumulative mortality was recorded until day $10^{\times}$ post-inoculation. The results show that the resistance to BmNPV in TX fellow mono Mendelian inheritance pattern. The resistance dominated over the susceptibility at Fl. At F2, the resistant and susceptible offspring segregated in 3:1 ratio whereas at BC(S), the resistant and susceptible offspring segregated in 1:1 ratio. The response of BC(R) was more or less like the resistant parent TX which confirms the involvement of a major dominant gene conferring resistance to BmNPV in TX. The possible mechanism of inheritance of resistance in TX is discussed.

• Journal of Life Science
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• v.13 no.4
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• pp.416-420
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• 2003

We performed this study to determine the parentage verification of putative dogs. A total of 7 samples (4 Labrador Retriever dog and 3 Poongsan dog) were genotyped by using 12 international markers (PEZ1, PEZ5, PEZ8, PEZ10, PEZ11, PEZ12, PEZ17, PEZ20, PEZ21, FHC2010, FHC2054, FHC2079). This methods consisted of multiplexing PCR procedures, and it showed reasonable amplification of all PCR products. Genotyping was performed with an ABI 310 genetic analyzer. Labrador Retriever Pup I and Pup II were included according to principles of Mendelian genetics in all loci, while Poongsan Pup III was excluded with markers PEZ1 (106/118), PEZ10 (276/300), and FHC2010 (228/232). These results suggest that the present DNA typing is so useful for parentage verification of these two breeds.

• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.229-234
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• 2018

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.