• Journal of Genetic Medicine
• /
• v.19 no.2
• /
• pp.115-119
• /
• 2022

The 46,XX testicular disorder of sex development (DSD) is a rare condition in which 46,XX individuals develop testicular differentiation and virilization. Translocation of the sex-determining region Y (SRY) onto the X chromosome is the main cause of 46,XX testicular DSD, whereas dysregulation between pro-testis and pro-ovarian genes can induce SRY-negative 46,XX testicular DSD. Nuclear receptor subfamily 5 group A member 1 (NR5A1), a nuclear receptor transcription factor, plays an essential role in gonadal development in XY and XX embryos. Herein, we report the first Korean case of SRY-negative 46,XX testicular DSD with a heterozygous NR5A1 p.Arg92Trp variant. The patient presented with a small penis, bifid scrotum, and bilateral undescended testes. Whole exome sequencing revealed a heterozygous missense variant (c.274C>T) of NR5A1. Our case highlights that NR5A1 gene variants need to be considered important causative factors of SRY-negative non-syndromic 46,XX testicular DSD.

• KSBB Journal
• /
• v.15 no.4
• /
• pp.411-413
• /
• 2000

A method is described for the rapid and simple isolation of genomic DNA from 3 mL culture of Lactobacillus crispatus KLB46 The isolated DNA using this method was shown to be an excellent substrate for restriction endonclease digestion and PCR. The method is expected to be used in gentic manipulation of L. crispatus KLB46.

• BMB Reports
• /
• v.29 no.1
• /
• pp.92-97
• /
• 1996

The age-46.5 gene of Escherichia coli is induced by nitrate ion and regulated by Fnr, NarL, and NarP during anaerobic growth. aeg-46.5::lacZ fusion gene shows its maximum expression in narL host after two hours of aerobic to anaerobic switch in M9-Glc-nitrate medium. Fnr and NarP act as positive regulators, and NarL acts as a negative regulator. The control region of the aeg-46.5 was identified and the binding sites of regulator proteins have been predicted (Reznikoff and Choe (1993)). It has two symmetry regions. One is located at -52~-37 bp from the anaerobic mRNA 5'-end, which is the binding site of NarL and NarP. The other is located at +37~+56 bp from the 5'-end of mRNA. In this study, the downstream symmetry region from the mRNA 5'-end was investigated by site-directed mutagenesis. The destruction of the symmetry region increases the expression level of aeg-46.5. We propose that the symmetry region interferes with the expression of aeg-46.5 possibly by forming a stem-and-loop structure.

• Food Science of Animal Resources
• /
• v.30 no.2
• /
• pp.223-231
• /
• 2010

In order to develop a new starter for fermented milk, Lactobacillus paracasei subsp. paracasei BFI46 (BFI46) obtained from new-born infant feces was investigated for physiological characteristics. Good immunomodulating activity was evident compared with commercial lactic acid bacteria starter cultures. The optimum growth temperature of BFI46 was $40^{\circ}C$ with 12 h required to reach pH 4.3. Testing with 13 different antibiotics revealed greatest sensitivity of BFI46 to penicillin- G and chloramphenicol, and heightened resistance to neomycin, kanamycin and polymyxin. BFI46 displayed higher esterase activities compared to 18 other enzymes, was comparatively tolerant to bile juice and able to survive at pH 2 for 3 h, and displayed high resistance against Escherichia coli and Salmonella Typhimurium with a survival rate of 57.14% and 96.36%, respectively. The results indicate that BFI46 could be an excellent starter culture for fermented milk with high level of immunomodulating activity.

• Korean Journal of Environmental Agriculture
• /
• v.40 no.1
• /
• pp.20-32
• /
• 2021

BACKGROUND: Bacterial shot hole of stone fruits is a seriuos plant disease caused by Xanthomonas arboricola pv. pruni (Xap). Techniques to control the disease are required. In this study, microorganisms with antibacterial activity were isolated to develop as a microbial agent against the bacterial shot hole. METHODS AND RESULTS: An isolate with the strongest activity among the isolates was identified as Streptomyces avidinii based on 16S rRNA gene sequence analysis and designated Streptomyces sp. J46. J46 showed suppression of bacterial leaf spot with a control value of 90% at 10 times-diluted cell free supernatant. To investigate antibacterial metabolites produced by J46, the supernatant of J46 was extracted with organic solvents, and the extracts were subjected to chromatography works. Antibacterial metabolites were not extractable with organic solvents. Both reverse and normal phase techniques were not successful because the metabolites were extremely water soluble. The antibacterial metabolites were not volatiles but protein compounds based on hydrolysis enzyme treatment. CONCLUSION: Our study suggests that Streptomyces sp. J46 may be a potential as an microbial agent against bacterial shot hole. Further study to identify the metabolites is required in more detail.

• Journal of Genetic Medicine
• /
• v.7 no.1
• /
• pp.82-86
• /
• 2010

Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]. The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13)[13]/46,XY,add(22)(q13)[5]/46 XY[23]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.

• 보건세계
• /
• v.46 no.4 s.512
• /
• pp.46-49
• /
• 1999

• 보건세계
• /
• v.46 no.6 s.514
• /
• pp.46-49
• /
• 1999

• 발명특허
• /
• v.1 no.1 s.1
• /
• pp.46-46
• /
• 1976

• 발명특허
• /
• v.2 no.10 s.20
• /
• pp.46-46
• /
• 1977