Mandibular prognathism is a facial skeletal malocclusion. Until now, the genetic mechanism has been unclear. The goal of this study was to identify candidate genes or genomic regions directly associated with mandibular prognathism development, by employing whole genome sequencing. A large Chinese family was recruited, composed of 9 affected and 12 unaffected individuals, and the inheritance pattern of this family tends to be autosomal dominant. A single-nucleotide missense mutation in the ADAMTS1 gene (c. 742I>T) was found to segregate in the family, given that the affected individuals must be heterozygous for the mutation. For mutation validation, we screened this candidate mutation and 15 tag single-nucleotide polymorphisms in the coding sequence of ADAMTS1 among 230 unrelated cases and 196 unrelated controls using Sequenom Massarray and found that 3 in 230 cases carried this mutation and none of the controls did. Final results suggested that 2 single-nucleotide polymorphisms (rs2738, rs229038) of ADAMTS1 were significantly associated with mandibular prognathism.

Diaphorina citri Kuwayama is the vector of citrus “huanglongbing”, a citrus disease which poses a significant threat to the global citrus industry. Trehalose-6-phosphate synthase (TPS) plays an important role in the regulation of trehalose levels of insects, while its functions in D. citri are unclear. In this study, full-length cDNA sequences of the TPS gene from D. citri (DcTPS) were cloned and its expression patterns at various developmental stages were investigated. The results indicated that DcTPS mRNA was expressed at each developmental stage and the highest DcTPS expression was found in the fifth-instar nymphs of D. citri. Additionally, mortality and deformity of D. citri were observed after 24 and 48 h by feeding with three different dsRNA concentrations (20, 100 and 500 ng/μL). The results indicated that DcTPS expression was declined, and mortality and malformation in nymphs were increased via feeding with dsDcTPS. Moreover, the enzyme and trehalose content were decreased, while the content of glucose was significantly higher than that of untreated (control) individuals. This suggests that DcTPS might be vital for the growth and development of D. citri and further studies of the genes should be related to molting and metabolism for controlling D. citri.

-The Melanocortin-1-receptor (MC1R) gene is an important candidate gene for the coat color trait. In order to understand the molecular genetic basis of the red head and neck of Boer goats, a comparative analysis of MC1R gene polymorphism in imported foreign breed Boer goats and another 26 goat populations including Boer goat offspring backcrossed to Tangshan Dairy goats (F 1 , F 2 , F 3 and F 4) , 18 Chinese main indigenous goat breeds and four other imported foreign goat breeds (including a total of 319 individuals) were analyzed by PCR-RFLP. Two alleles of A and B, and three genotypes of AA, AB and BB were detected. The K226E (A676G) mutation of the MC1R detected by sequencing distinguished the B allele from the A allele. The only AA genotype found in Boer goats was complete in accordance with their red head and neck. The Chi-square test suggested that the red head and neck of Boer goats may be controlled by the recessive A allele of the MC1R gene. However, the K226E at the B allele may be a loss of function mutation associated with the whole white coat of goats.Boer goat / red head and neck / MC1R gene / K226E mutation / white coat Résumé -La tête et le cou rouge chez la chèvre Boer seraient contrôlés par un allèle récessif de MC1R. Le récepteur 1 de la mélanocortine (MC1R) est un gène important pour le déterminisme génétique de la couleur du pelage. Pour comprendre la base moléculaire du caractère « tête et cou rouge » chez des chèvres Boer importées et chez 26 populations incluant des descendants améliorés par des croisements de cette chèvre avec celle de la variété laitière des Tangshan (F1, F2, F3, F4 chèvre Boer / tête et cou rouge / gène MC1R / mutation K226E / pelage blanc

No abstract