Abnormal HLA-G expression occurs in various diseases such as melanoma, renal cell carcinoma, asthma, and classic Hodgkin’s lymphoma. The purpose of this study was to determine whether HLA-G gene is linked with oral squamous cell carcinoma (OSCC). To investigate the possible link with susceptibility to OSCC, 54 OSCC patients and 120 healthy controls were enrolled in this study. HLA-G 14bp insertion/deletion polymorphism is in 3'-untranslated region of HLA-G gene. HLA-G 14bp insertion/deletion polymorphism was analyzed using the polymerase chain reaction (PCR) method. For the analysis of genetic data, SPSS18.0 program was used. Logistic regression models were performed for odds ratio (OR), 95 percent confidence interval (CI), and p value. There was a significant difference in distribution allele between OSCC patients and control subjects (OR=0.018, 95% CI=0.002- 0.131, p<0.001). Our results suggest that HLA-G 14bp insertion/deletion polymorphism may be linked with susceptibility to OSCC in the Korean population.

This study investigated the production patterns of vowel epenthesis/deletion in Korean learners’ English contrasts of /ʧ/ vs. /ʧi/ and /ʤ/ vs. /ʤi/ in word-final position, where such errors are frequently observed among the learners. Through a production experiment of 20 pairs of English words contrastive in word-final vowel, a total of 800 tokens were obtained from 20 Korean learners of English of high and low proficiency levels. The results revealed that the learners exhibited phonological processes of vowel epenthesis or deletion and that multiple factors such as voicing of a preceding consonant, frequencies of target words and learners’ proficiency in target language were involved. Voicing of a final palato-alveolar affricate played an important role in vowel epenthesis. With regard to vowel deletion, learners with low proficiency levels showed the influence of voicing of a palato-alveolar affricate by deleting the vowel /i/ more frequently after the voiceless /ʧ/ than after the voiced /ʤ/. Overall, the vowel epenthesis error seems to be motivated by L1 phonology while vowel deletion error was influenced by word frequencies. Further acoustic analysis revealed that higher-level learners’ epenthetic vowels, when compared to lexical vowels, exhibited significant differences with regard to vowel ratio and F1 while the low-level learners’ did not.

Endothelin 2 (EDN2) induces follicular rupture by constricting periovulatory follicles. In this study, it was investigated the mechanisms of EDN2 action on follicular rupture with respect of receptor using the conditionally granulosa cell specific EDN2 receptor type A (ETa) KO mice (gcETaKO; ETaflox/-․Amhr2Cre). It was generated the gcETaKO mice by breeding with ETaflox/- mice after mono-alleic ETa knockout by ZP3Cre and Amhr2Cre mice. Fertility, ovulation and maturation rates of ovulated oocytes after super ovulation were investigated in the gcETaKO mice compared with wild-type mice (ETaflox/flox and ETaflox/-) as a control group. In the gcETaKO mice, normal fertility after breeding with male mice was shown compared with wild-type mice. And, there was no significant differences in ovulation rates after super ovulation, however its maturation rates was lower than that of wild type mice. These findings show that EDN2 in follicular rupture for ovulation is related with an other ETa not in granulosa cells. Further studies are needed to investigate how EDN2 is acted in ovarian follicular rupture for ovulation.

Transgenic chickens have been spotlighted as an highly potent bioreactor for their fecundity, short generation time, and eggs associated with mass production of protein. In this study, we generated transgenic chickens exhibiting oviduct specific expression of human growth hormone fused to human transferrin for oral administration. Gene of the modified growth hormone located at downstream ovalbumin promoter (∼3.6 kb) was introduced to stage X blastodermal cell employing retrovirus vector system. Several transgenic chickens were successfully generated. However, genomic analyses showed unexpected deletion within the transgene. The modification of the transgene seemed to occur during germ cell formation because the deletion was detected only from the sperm DNA of the G0 founder animal. There was no evidence of deletion in the somatic cell DNA samples of the same chicken. Consequently, same pattern of the deletion was confirmed in both somatic and germ cells of the G1 progeny.

Mutations in DLX3 are associated with both autosomal dominant hypoplastic hypomaturation amelogenesis imperfecta (ADHHAI) and tricho-dento-osseous (TDO) syndrome. ADHHAI is caused by a c.561_562delCT (2bp-del DLX3) mutation whereas TDO syndrome is associated with a c.571_574delGGGG (4bp-del DLX3) mutation. However, although the causal relationships between DLX3 and an enamel phenotype have been established, the pathophysiological role of DLX3 mutations in enamel development has not yet been clarified. In our current study, we prepared expression vectors for wild type and deletion mutant DLX3 products (4bp-del DLX3, 2bp-del DLX3) and examined the effects of their overexpression on the expression of the enamel matrix proteins and proteases. Wild type DLX3 enhanced the expression of matrix metalloprotease 20 (MMP20) mRNA and protein in murine ameloblast-like cells. However, neither a 4bp-del nor 2bp-del DLX3 increased MMP20 expression. Wild type DLX3, but not the above DLX3 mutants, also increased the activity of reporters containing 1.5 kb or 0.5 kb of the MMP20 promoter. An examination of protein stability showed that the half-life of wild type DLX3 protein was less than 12 h whilst that of both deletion mutants was longer than 24 h. Endogenous Dlx3 was also found to be continuously expressed during ameloblast differentiation. Since inactivating mutations in the gene encoding MMP20 are associated with amelogenesis imperfecta, the inability of 4bp-del or 2bp-del DLX3 to induce MMP20 expression suggests a possible involvement of such mutations in the enamel phenotype associated with TDO syndrome or ADHHAI.

Estrogen plays an important role both in male and female reproduction. Two estrogen receptor isoforms, Esr1 and Esr2, are expressed in male gonad. In the mouse, Esr1 is expressed in Leydig cells of testis and pituitary. Esr1-/- male mice show enhanced androgen synthesis, spermatogenic defect, and infertility. To evaluate the specific function of Esr1 in Leydig cells, we examined spermatogenesis and steroidogenesis in Esr1f/fCyp17iCre male mice in which Esr1 is deleted specifically in Leydig cells. These mice showed normal spermatogenesis and fertility when compared to wild type from young adulthood to old age. Testosterone synthesis in Esr1f/fCyp17iCre mice at 3-12 months old of age was not different from age-matched wild type mice, while, at 18 months old of age, circulating testosterone concentrations were significantly higher than wild type together with increased levels of Star, Cyp17a1, and Hsd17b3 mRNA and with a hypertropy of Leydig cells. In Esr1f/fCyp17iCre mouse pituitaries, Fshb and Lhb mRNA levels were not different from wild type from young adulthood to old age. Taken together, Esr1 in Leydig cells may be not essential for spermatogenesis and fertility under control of endogenous estrogens and may have a role in aged Leydig cell function.

Autophagy is a self-degradative process which accompanies the formation of double-membraned vesicles inside the cell. In the mouse uterus, autophagy is enhanced during steroid hormone deprivation and associated with acute inflammation. There are 17 major Autophagy related genes (Atg). Herein we investigated the role for Atg7 by using uterine cell-specific deletion model of this gene. We crossed Atg7flox/flox (Atg7f/f) mouse and Anti-Mullerian hormone type 2 receptor (Amhr2)-Cre mice (Amhr2-Cre; Atg7f/f). Amhr2 is mainly expressed in stroma and myometrium in the uterus, ovary, and oviduct, during 30 to 60 days. To confirm the region of Cre expression and to monitor whether conditional deletion of Atg7 was by Cre recombinase, we isolated uterine epithelial and stromal cells from 8 and 16 weeks mice by enzymatic digestion and performed RT-PCR. We confirmed that Amhr2-Cre is expressed in stoma and myomotrium, but not in epithelium. Then we examined the uterine histology and embryonic development of day 3 pregnant Amhr2-Cre; Atg7f/f mice. However, there was no specific difference between Atg7f/f (control) and Amhr2-Cre; Atg7f/f mice. To examine the effect of hormone deprivation, we performed western blotting and immunofluorescence staining of p62 (SQSTM1), an indicator of autophagic flux, and LC3B, a marker of autophagic activation, in Amhr2-Cre; Atg7f/f mice ovariectomized (OVX) for 2 weeks. p62 increased dramatically in OVX Amhr2-Cre; Atg7f/f uteri but not in control mice, suggesting that autophagic activation did not occur in the absence of Atg7 in the uterine stroma and that this led to massive accumulation of p62 in this cell type. p62 marks to-be-degraded proteins and target them for autophagic-lysosomal degradation. Thus it is predictable that Atg7-driven uterine autophagy is responsible for degradation of macromolecules during hormone deprivation.

Cultivated tomato (Solanum lycopersicum L.) is an economically important vegetable and has a narrow genetic base due to intensive human selection through domestication and breeding. The low level of genetic variation between cultivated tomatoes has made it difficult to develop molecular markers for elite breeding lines. Recently, genome-wide 145,695 InDels were identified from in silico analysis of two tomato genome sequences, Heinz 1706 (S. lycoperiscum) and LA1589 (S. pimpnellifolium). Of these, 2,272 InDels were validated and 717 InDels showed polymorphism in cultivated tomatoes. In the present study, we selected 48 out of 717 InDels based on PIC value (> 0.3) and size (> 10 bp) to develop a DNA database for commercial tomato cultivars. We also used an additional set of 28 InDels that have been previously reported. These markers were distributed across 11 chromosomes with an average of 6.6 markers. A total of 48 F1 hybrid cultivars were collected from 20 seed companies and a subset of eight cultivars were used to test polymorphism of the InDel markers. The 37 InDel markers were polymorphic in these cultivars and were used to genotype additional 40 cultivars. Genetic distances and relationships between cultivars were assessed using the InDel genotypes of 48 cultivars. This analysis revealed that the InDel markers detected genetic variations to identify 46 cultivars. Our results demonstrate that the InDel markers will be a useful resource to construct a DNA database for tomato cultivars and to protect tomato breeder’s rights via variety identification.

Xp21 contiguous gene deletion syndrome involves the glycerol kinase (GK) gene, adrenal hypoplasia congenital (AHC) gene and Duchenne's muscular dystrophy (DMD) gene, which are located contiguously on Xp21 chromosome. The clinical features of a patient with Xp21 contiguous gene deletion syndrome are the sum of those of each disease; psychomotor retardation and lethargy for GK deficiency, hyperpigmentation and salt wasting dehydration for AHC, and muscular weakness and hypotonia for DMD. Chromosomal microarray analysis is performed for confirmation of Xp21 contiguous gene deletion syndrome. The goal of treatment is to control each of the diseases. We experienced and reported on a neonatal case of Xp21 contiguous gene deletion syndrome of AHC, GK deficiency, and DMD.

This paper argues against micro-parametric approaches to Korean macro-micro type multiple accusative constructions. It has been argued that macro-micro type multiple accusative constructions are derived through movement and deletion or through late merge of the second accusative marked nominal. However, the approaches cannot explain case alternation facts when the target construction is combined with -ko siphta. The paper claims that if the construction is explained under the assumption that dependent marking languages like Korean and Japanese use a different mode of syntactic combination from English, the case alternation facts in the ko-siphta construction are readily explained. Dependent marking languages use dependent markers (i.e., case markers) in deriving syntactic derivation and using accusative marked nominals consecutively without having intervening predicates in a sentence is interpreted as a very convenient device for squeezing ideas into one clause without explicitly expressing the relationship between the nominals.

English displays a variety of complex properties in comparatives. In particular, it employs three main types of comparatives: comparative total-deletion (CTD), comparative subdeletion (CSD), partitive comparative deletion (PCD). In this paper, we first look into the grammatical properties of these three types of comparatives in English and provide a construction-based perspective with the mechanism of inheritance. This perspective, allowing us to tease part the similarities and differences among the three types of comparatives, can provide us a reasonable way to explain the phenomena in question.