Ask about this productRelated genes to: GLT6D1 antibody
- Gene:
- GLT6D1 NIH gene
- Name:
- glycosyltransferase 6 domain containing 1
- Previous symbol:
- GLTDC1
- Synonyms:
- -
- Chromosome:
- 9q34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-01
- Date modifiied:
- 2015-09-07
Related products to: GLT6D1 antibody
Related articles to: GLT6D1 antibody
- Gene polymorphisms can predispose to periodontal disease, as demonstrated by the well-documented association between aggressive periodontitis and single nucleotide polymorphisms (SNPs) such as rs153745 in the GLT6D1 gene and rs3217992 in the CDKN2BAS gene. The purpose of this study was to evaluate the presence of these SNPs in Brazilian patients with advanced periodontitis (stages III/IV, Grade B/C) vs. healthy controls. A total of 100 patients with periodontitis (Group BC) were enrolled. Of these, 51 patients were classified as stage III and 49 patients were classified as stage IV, and 52 were Grade B (Group B) and 48 were Grade C (Group C). The control Group consisted of 61 healthy subjects. DNA samples extracted from buccal epithelial cells were used to genotype the SNPs rs1537415 (GLT6D1) and rs3217992 (CDKN2BAS) by real-time quantitative PCR. No significant differences in polymorphism frequency were found between the control Group and each of the patient groups (BC, B, or C), and Group B did not differ from Group C. In conclusion, the evaluated SNPs had no significant influence on the prevalence of periodontal disease in the sampled Brazilian population. - Source: PubMed
Publication date: 2022/06/10
Rodrigues Richelle SoaresRêgo RodrigoCaminaga Raquel Mantuaneli ScarelGoveia Jéssica MarinaSilveira Virginia Régia Souza - Periodontitis is characterized by alveolar bone loss leading to tooth loss. A small proportion of patients develop severe periodontitis at the juvenile or adolescent age without exposure to the main risk factors of the disease. It is considered that these cases carry rare variants with large causal effects, but the specific variants are largely unknown. In this study, we performed exome sequencing of 5 families with children who developed stage IV, grade C, periodontitis between 3 and 18 y of age. In 1 family, we found compound heterozygous variants in the gene (p.R272H, p.G139R), 1 of which was previously identified in a family with prepubertal periodontitis. Subsequent targeted resequencing of the gene in 24 patients <25 y of age (stage IV, grade C) identified the known mutation p.I453V (odds ratio = 4.06, 95% CI = 1.6 to 10.3, = 0.001), which was previously reported to increase the risk for adolescent periodontitis. An affected sibling of another family carried a homozygous deleterious mutation in the gene (p.R560Q, CADD score >30 [Combined Annotation Dependent Depletion]), which is implicated in regulation of interleukin 6 expression. Two other affected siblings shared heterozygous deleterious mutations in the interacting genes and (both CADD = 36), which contribute to the integrity of the environment-tissue barrier interface. Additionally, we found predicted deleterious mutations in the periodontitis risk genes , , and . We conclude that the variants p.R272H and p.I453V have different expressivity and diagnostic relevance for prepubertal and adolescent periodontitis, respectively. We propose additional causal variants for early-onset periodontitis, which also locate within genes that carry known susceptibility variants for common forms. However, the genetic architecture of juvenile periodontitis is complex and differs among the affected siblings of the sequenced families. - Source: PubMed
Publication date: 2021/09/13
Richter G MWagner GReichenmiller KStaufenbiel IMartins OLöscher B SHoltgrewe MJepsen SDommisch HSchaefer A S - As the world population continues to increase to unsustainable levels, the importance of birth control and the development of new contraceptives are emerging. To date, male contraceptive options have been lagging behind those available to women, and those few options available are not satisfactory to everyone. To solve this problem, we have been searching for new candidate target proteins for non-hormonal contraceptives. Testis-specific proteins are appealing targets for male contraceptives because they are more likely to be involved in male reproduction and their targeting by small molecules is predicted to have no on-target harmful effects on other organs. Using in silico analysis, we identified Erich2, Glt6d1, Prss58, Slfnl1, Sppl2c, Stpg3, Tex33, and Tex36 as testis-abundant genes in both mouse and human. The genes, 4930402F06Rik and 4930568D16Rik, are testis-abundant paralogs of Glt6d1 that we also discovered in mice but not in human, and were also included in our studies to eliminate the potential compensation. We generated knockout (KO) mouse lines of all listed genes using the CRISPR/Cas9 system. Analysis of all of the individual KO mouse lines as well as Glt6d1/4930402F06Rik/4930568D16Rik TKO mouse lines revealed that they are male fertile with no observable defects in reproductive organs, suggesting that these 10 genes are not required for male fertility nor play redundant roles in the case of the 3 Glt6D1 paralogs. Further studies are needed to uncover protein function(s), but in vivo functional screening using the CRISPR/Cas9 system is a fast and accurate way to find genes essential for male fertility, which may apply to studies of genes expressed elsewhere. In this study, although we could not find any potential protein targets for non-hormonal male contraceptives, our findings help to streamline efforts to find and focus on only the essential genes. - Source: PubMed
Park SoojinShimada KeisukeFujihara YoshitakaXu ZoulanShimada KentaroLarasati TamaraPratiwi PutriMatzuk Ryan MDevlin Darius JYu ZhifengGarcia Thomas XMatzuk Martin MIkawa Masahito - Papillon-Lefévre syndrome (PLS; OMIM 245000) and Haim-Munk syndrome (HMS; OMIM 245010), which are both characterized by palmoplantar hyperkeratosis and periodontitis, are phenotypic variants of the same disease caused by mutations of the cathepsin C (CTSC) gene. - Source: PubMed
Publication date: 2020/03/09
Pap É MFarkas KTóth LFábos BSzéll MNémeth GNagy N - Human milk oligosaccharides (OS) play a key role in brain and gut microbiota development of the neonate, but the underlying biosynthetic steps of OS in the mammary gland are still largely unknown. As bovine milk contains OS with somewhat similar structures and functionalities there is increased interest in further understanding the genetic basis underlying the OS content of milk for eventual extraction and generation of value-added ingredients for infant formulas and nutraceuticals. The present study is the first to report on genetic parameter estimation as well as on a genome wide association study (GWAS) from the largest bovine milk OS dataset analyzed to date. - Source: PubMed
Publication date: 2019/05/22
Poulsen Nina ARobinson Randall CBarile DanielaLarsen Lotte BBuitenhuis Bart