A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

BACKGROUND: Cockayne syndrome is an inherited heterogeneous defect in transcription-coupled DNA repair (TCR) cause severe clinical syndromes, which may affect the nervous system development of infants and even lead to premature death in some cases. ERCC8 diverse critical roles in the nucleotide excision repair (NER) complex, which is one of the disease-causing genes of Cockayne syndrome. METHODS AND RESULTS: The mutation of ERCC8 in the patient was identified and validated using WES and Sanger sequencing. Specifically, a compound heterozygous mutation (c.454_460dupGTCTCCA p. T154Sfs*13 and c.755_759delGTTTT p.C252Yfs*3) of ERCC8 (CSA) was found, which could potentially be the genetic cause of Cockayne syndrome in the proband. CONCLUSION: In this study, we identified a novel heterozygous mutation of ERCC8 in a Chinese family with Cockayne syndrome, which enlarging the genetic spectrum of the disease.

Characterizing the remobilization flux of cadmium from pre-anthesis vegetative pools in rice during grain filling using an improved stable isotope labeling method.

A clear understanding of the allocation of Cd to grains is essential to manage the level of Cd in cereal diets effectively. Yet, debate remains over whether and how the pre-anthesis pools contribute to grain Cd accumulation, resulting in uncertainty regarding the need to control plant Cd uptake during vegetative growth. To this end, rice seedlings were exposed to 111Cd labeled solution until tillering, transplanted to unlabeled soils, and grown under open-air conditions. The remobilization of Cd derived from pre-anthesis vegetative pools was studied through the fluxes of 111Cd-enriched label among organs during grain filling. The 111Cd label was continuously allocated to the grain after anthesis. The lower leaves remobilized the Cd label during the earlier stage of grain development, which was allocated almost equally to the grains and husks + rachis. During the final stage, the Cd label was strongly remobilized from the roots and, less importantly, the internodes, which was strongly allocated to the nodes and, to a less extent, the grains. The results show that the pre-anthesis vegetative pools are an important source of Cd in rice grains. The lower leaves, internodes, and roots are the source organs, whereas the husks + rachis and nodes are the sinks competing with the grain for the remobilized Cd. This study provides insight into understanding the ecophysiological mechanism of Cd remobilization and setting agronomic measures for lowering grain Cd levels.