• 제목/요약/키워드: DAZ

검색결과 11건 처리시간 0.032초

A study on the patterns of expression of the DAZ and HSP genes in the testicular tissue of men with azoospermia

  • Lee, Ho-Joon;Lee, Hyoung-Song;Song, Gyun-Jee;Byun, Hye-Kyung;Cho, Youl-Hee;Kim, Jong-Hyun;Seo, Ju-Tae;Lee, Yoo-Sik
    • Journal of Genetic Medicine
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    • 제1권1호
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    • pp.51-56
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    • 1997
  • Spermatogenesis is known to be regulated by a number of genes and several factors such as hormones, growth factors, cytokines and others. This study was done to evaluate the relationship between HSPs and DAZ genes in human spermatogenesis; we observed the expression pattern of HSP gene in azoospermia men with DAZ gene that regulated the gene expression related with human spermatogenesis. RT-PCR method was used to detect DAZ, HSP70A, and HSP70B transcripts in all RNA samples. Total RNA was extracted from 21 testis tissues using TRIZOL reagent. cDNAs were synthesized with reverse transcriptase, AMV. All PCR reaction were performed on a PCR themocycler with DAZ, HSP70A, and HSP70B-specific primers. Semen analysis, karyotyping and testis histology were performed. DAZ gene, known as a candidate gene of azoospermia factor(AZF), was deleted in 2 of 21 patients. To evaluate the only effects of HSPs in this patients, 2 DAZ deleted cases were removed. We observed the mRNA of HSP70B in 5 whereas none could be seen with regard to HSP70A. Furthermore, the sperm of these 5 men were discovered to be immature. In conclusion, HSP70B as well ad DAZ gene seem to be involved causing spermatogenic failure. We suggest that HSP70B plays an important role in spermatogenesis and it is one of factors induced sperm maturation in human.

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한국 남성 불임환자에서 Y 염색체상의 AZF Gene에 대한 분석 및 DAZ Gene의 발현 양상 (Analysis of the Azoospermia Factor (AZF) Gene on Y Chromosome and Expression Pattern of DAZ Gene in Korean Infertile Men)

  • 이호준;이형송;송견지;변혜경;서주태;김종현;이유식
    • Clinical and Experimental Reproductive Medicine
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    • 제24권1호
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    • pp.57-65
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    • 1997
  • Cytogenetic observations of loss of the distal portion of the Y chromosome long arm were found to be associated with disrupted spermatogenesis. The existence of a gene involved in the regulation of spermatogenesis, the azoospermia factor (AZF), was postulated. In this study, we screened the AZF region including DAZ and DAZH genes and observed the expression pattern of DAZ and DAZH transcript in infertile men with azoospermia and oligospermia by using a sequence-tagged site (STS)-based PCR method. PCR primers were synthesized for 11 STSs that span Yq interval 6, SRY, DAZ, and DAZH, functional DAZ homologue on chromosome 3. Microdeletions were detected in 4/32 (12.5%) azoospermic men and 1/11 (9%) severe oligospermic men. Only 2 of 5 patients had microdeletions of Yq that contained the DAZ gene, whereas the other 3 patients had deletions extending from intervals 5L-6F proximal to the DAZ gene on Yq. Testis biopsies of the azoospermic patients revealed a variety from Sertoli cell-only syndrome to testicular maturation arrest. Of 4 men with clinical data available, average testis size was R: 13.8 cc, L: 13.8 cc, serum T was $4.0{\pm}1.25$ ng/ml, LH was $3.63{\pm}1.90$ mIU/ml, and FSH was $8.85{\pm}5.13$ mIU/ml. These values did not differ significantly from the remainder of the patients tested. We could not observed the DAZ transcript in 2 patients, who have no mature spermatozoa. In 11.6% of patients microdeletions of the AZF could be detected. These deletions in the AZF region seem to be involved causing spermatogenic failure. But the frequency of microdeletions proximal to DAZ suggests that DAZ is not the only gene associated with spermatogenic failure.

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Genetic Screening of the Dazl-Interacting Protein Genes

  • Lee, Kyung-Ho;Lee, Seong-Ju;Rhee, Kun-Soo
    • Animal cells and systems
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    • 제10권4호
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    • pp.227-231
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    • 2006
  • Micro-deletions at specific loci of the Y chromosome have been observed frequently in male infertility patients, suggesting that genes in these regions are involved in male germ cell development. DAZ is a representative male infertility gene at the AZFc locus of the Y chromosome. Since DAZ contains an RNA binding motif along with so-called a DAZ domain, it was proposed to participate in RNA metabolism during spermatogenesis. A mouse gene homologous to the human DAZ gene has been cloned and named Dazl (DAZlike). Dazl is autosomal and expressed in the testis and also at a low level in the ovary. Male mice homozygous for the Dazl null allele have small testes with a few spermatogonia and almost complete absence of germ cells beyond the spermatogonial stage, suggesting the requirement of Dazl for entry or progression through meiosis. However, its exact cellular functions have not been understood yet. In order to investigate cellular functions of Dazl, we decided to isolate candidate interacting protein genes of the mouse Dazl, using yeast two-hybrid screening. A number of candidate Dazlinteracting proteins have been isolated, such as Bprp, Acf, Hgs, Murr1, Nbak3 and Ranbp9, but dynein light chain 1 (Dlc1) was most predominant. A strong interaction of Dazl with Dlc1 suggests that Dazl might function as an mRNA adaptor to the dynein motor complex.

한국인 남성 불임환자에서 Y염색체내 미세결실의 분자유전학적 분석 (Molecular Genetic Analysis of Microdeletions in Y Chromosome from Korean Male Infertility Patients)

  • 윤현수;이정현;서주태;김해정;이동률;전종식;조정현;김문규;이무상;노성일
    • Clinical and Experimental Reproductive Medicine
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    • 제23권3호
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    • pp.367-377
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    • 1996
  • Genes on the long arm of Y chromosome, particularly interval 6, are believed to playa critical role in human spermatogenesis. The objective of this study was to validate a sequenced-tagged site(STS)-mapping strategy for the detection of Yq microdeletion and to use this method to determine the proportion of men with Yq microdeletions in idiopathic, obstructive, nonobstructive azoospermia, severe OATS and in normal males. We analyzed three STS markers mapped to interval 6 within long arm of the Y chromosome from 106 nonobstructive, 30 obstructive azoospermia, 15 severe OATS patients, and normal 42 males in Korean men. By PCR, we tested leukocyte DNA, for the presences of STS markers(DAZ, sY129 and sY134) and SRY gene as internal control. And PCR results were confirmed by Southern hybridization, and were investigated by SSCP analysis for DAZ gene mutation. None of 42 normal males and 30 obstructive azoospermia had microdeletions, Of the 15 severe OATS typed with DAZ, sY129 and sY134, 3(20.0%) patients failed to amplify 1 or more STS markers, and of the 106 nonobstructive azoospermia typed with DAZ, sY129 and sY134, 12(11.3%) patients failed to amplify 1 or more STS markers. From these results, high prevalence(12.4%) of Yq deletion(DAZ, sY129, sY134) in men with nonobstructive idopathic azoospermia and severe OATS were observed in Korean infertility patients. To avoid the infertile offspring by assisted reproductive technique using ICSI or ROSI, genetic diagnosis will be needed in IVF-ET program.

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남성 불임의 유전성 요인 (Genetic Causes in Male Infertility of Human)

  • 김의수;이건수
    • 한국발생생물학회지:발생과생식
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    • 제3권1호
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    • pp.1-13
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    • 1999
  • 남성 불임에 있어서 유전적 결함은 중요한 요인 중 하나이다. 정자 형성은 매우 복잡한 과정을 거치므로 생식세포의 완전한 발달을 조절하는데 많은 유전자들이 관여할 개연성이 높다. 이들 유전자 중에서 불임 유발 유전자는 다른 기능은 정상이되 생식에만 제한적으로 영향을 미치는 유전자들로 정의될 수 있다. 불임 남성에게서 Y 염색체의 미세결실(microdeletion)이 자주 관찰되었고, RBM과 DAZ라는 유전자가 그 위치에 존재함이 알려졌다. 또한 상 염색체에 존재하는 유전자를 인위적으로 변이시킨 생쥐들 가운데 표현형이 웅성불임으로만 국한하여 나타나는 경우가 있는데, 이런 유전자들도 남성 불임 유전자의 후보로 간주할 수 있으며, 실제로 이 유전자들의 변이에 말미암은 남성 불임 환자도 적지 않을 것으로 사료된다.

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의류수출업체의 3D 디자이너 직무에 대한 질적 연구 (A Qualitative Study on 3D Designer Jobs in Fashion Vendors)

  • 최영림
    • 한국의류산업학회지
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    • 제23권4호
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    • pp.504-514
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    • 2021
  • This study attempted to extract and structure the job skills required for 3D designers, which have been recently introduced to the fashion industry. The study aimed to materialize and objectify the 3D designer's job, using a focus group interview for the survey. The 3D designer has the TD task of making 3D virtual samples using the pattern files developed in Pattern CAD. Graphic design and fabric digitization are also major tasks for the 3D designer. CLO is mainly used for 3D virtual sample production, and PixPlant, Substance, Photoshop, Cinema 4D, Daz studio, and 3ds MAX are used for image and avatar editing. As per the job skills required for 3D design work, basic knowledge about patterns and sewing, skill in 3D virtual clothing technology, ability to use various software, and English skills were considered important, in that order. In particular, the need for knowledge about patterns and sewing became more important than the skill in 3D virtual clothing technology itself. To train 3D designers, it was found that not only 3D virtual clothing software, but also education on patterns and clothing construction, CAD developer's curriculum certification system, and 3D designer qualification management were required. In addition, 3D designers are recognized as an essential job in fashion vendors, and the demand for domestic brands is increasing. The biggest limitation of the 3D virtual clothing system is the perfection of the digital fabric. Also, technical improvement is needed.

Identification of genomic diversity and selection signatures in Luxi cattle using whole-genome sequencing data

  • Mingyue Hu;Lulu Shi;Wenfeng Yi;Feng Li;Shouqing Yan
    • Animal Bioscience
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    • 제37권3호
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    • pp.461-470
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    • 2024
  • Objective: The objective of this study was to investigate the genetic diversity, population structure and whole-genome selection signatures of Luxi cattle to reveal its genomic characteristics in terms of meat and carcass traits, skeletal muscle development, body size, and other traits. Methods: To further analyze the genomic characteristics of Luxi cattle, this study sequenced the whole-genome of 16 individuals from the core conservation farm in Shandong region, and collected 174 published genomes of cattle for conjoint analysis. Furthermore, three different statistics (pi, Fst, and XP-EHH) were used to detect potential positive selection signatures related to selection in Luxi cattle. Moreover, gene ontology and Kyoto encyclopedia of genes and genomes pathway enrichment analyses were performed to reveal the potential biological function of candidate genes harbored in selected regions. Results: The results showed that Luxi cattle had high genomic diversity and low inbreeding levels. Using three complementary methods (pi, Fst, and XP-EHH) to detect the signatures of selection in the Luxi cattle genome, there were 2,941, 2,221 and 1,304 potentially selected genes identified, respectively. Furthermore, there were 45 genes annotated in common overlapping genomic regions covered 0.723 Mb, including PLAG1 zinc finger (PLAG1), dedicator of cytokinesis 3 (DOCK3), ephrin A2 (EFNA2), DAZ associated protein 1 (DAZAP1), Ral GTPase activating protein catalytic subunit alpha 1 (RALGAPA1), mediator complex subunit 13 (MED13), and decaprenyl diphosphate synthase subunit 2 (PDSS2), most of which were enriched in pathways related to muscle growth and differentiation and immunity. Conclusion: In this study, we provided a series of genes associated with important economic traits were found in positive selection regions, and a scientific basis for the scientific conservation and genetic improvement of Luxi cattle.