Design Process Optimization Based on Design Process Gene Mapping

The idea of genetic engineering is introduced into the area of product design to improve the design efficiency. A method towards design process optimization based on the design process gene is proposed through analyzing the correlation between the design process gene and characteristics of the design process. The concept of the design process gene is analyzed and categorized into five categories that are the task specification gene, the concept design gene, the overall design gene, the detailed design gene and the processing design gene in the light of five design phases. The elements and their interactions involved in each kind of design process gene signprocess gene mapping is drawn with its structure disclosed based on its function that process gene.

Genetics of congenital heart defects in DiGeorge syndrome

Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which are highly variable and severe. However, the genetics of CHD in DGS remain elusive. This review concludes that the TBX1 gene plays a critical role in cardiovascular defects, involving many additional genes, such as Six1, Eya1, Fgf8, Fox, and Shh. Concerning the variable manifestations of CHD in DGS,additional modifiers have been shown of involvement, such as Wnt, MOZ, micro RNAs, VEGF, and CRK.Knowledge of the genetics underlying CHD in DGS has the potential to early detection and treatment of this disease.

From azoospermia to macrozoospermia,a phenotypic continuum due to mutations in the ZMYND15 gene

Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing(WES),many genes have now been linked to severe sperm defects.A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C(AURKC)gene.Here,we studied a subject with a severe oligozoospermia and a phenotypic diagnosis of macrozoospermia.AURKC analysis did not reveal any deleterious variant.WES was then initiated which permitted to identify a homozygous loss of function variant in the zinc finger MYND-type containing 15(ZMYND15)gene.ZMYND15 has been described to serve as a switch for haploid gene expression,and mice devoid of ZMYND15 were shown to be sterile due to nonobstructive azoospermia(NOA).In man,ZMYND15 has been associated with NOA and severe oligozoospermia.We confirm here that the presence of a bi-allelic ZMYND15 variant induces a severe oligozoospermia.In addition,we show that severe oligozoospermia can be associated macrozoospermia,and that a phenotypic misdiagnosis is possible,potentially delaying the genetic diagnosis.In conclusion,genetic defects in ZMYND15 can induce complete NOA or severe oligozoospermia associated with a very severe teratozoospermia.In our experience,severe oligozoospermia is often associated with severe teratozoospermia and can sometimes be misinterpreted as macrozoospermia or globozoospermia.In these instances,specific AURKC or dpy-19 like 2(DPY19L2)diagnosis is usually negative and we recommend the direct use of a pan-genomic techniques such as WES.

Cloning of the Full-length cDNA of the Wheat Involved in Salt Stress：Root Hair Defective 3 Gene （RHD3）

The full-length cDNA of the wheat (Triticum aestivum L.) root hair defective 3 gene (RHD3) has been cloned from the salt-tolerant hybrid wheat variety Shanrong No. 3 (Za3) using the mRNA differential display and 5’rapid amplification of cDNA ends (RACE) methods. Analysis of the amino acid sequence deduced from the wheat RHD3, gene shows that two conservative GTP-binding motifs, namely GXXXXGKS and DXXG, in eukaryotes also exist at the N-terminal of wheat RHD3. In addition, an 18 amino acid residue transmembrane domain, namely FYLAVMFVVFLVGKAIWV, exists at positions 701—718 of the C-terminal of the deduced protein of wheat RHD3 obtained, but this domain is absent in another three proteins aligned, including rice RHD3, Arabidopsis RHD3, and yeast homologue SEY1. Northern blot revealed that transcription of the wheat RHD3, gene is down-regulated in both the salt-tolerant line and in JN177 under saline stress. A possible stress-responsive mechanism for this gene is discussed.

Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis

It is timely to consider the many facets of the small molecule orotic acid （OA）, which is well-known as an essential intermediate of pyrimidine de novo synthesis. In addition, it can be taken up by erythrocytes and hepatocytes for conversion into uridine and for use in the pyrimidine recycling pathway. We discuss the link between dietary orotate and fatty liver in rats, and the potential for the alleviation of neonatal hyperbilirubinaemia. We address the development of orotate derivatives for application as anti-pyrimidine drugs, and of com- plexes with metal ions and organic cations to assist therapies of metabolic syndromes. Recent genetic data link human Miller syndrome to defects in the dihydroorotate dehydrogenase （DHODH） gene, hence to depleted orotate production. Another defect in pyrimidine biosynthesis, the orotic aciduria arising in humans and cattle with a deficiency of UMP synthase （UMPS）, has different symptoms. More recent work leads us to conclude that OA may have a role in regulating gene transcription.