Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency

APRT) deficiency is an uncommon genetic cause ofchronic kidney disease due to crystalline nephropathy.Methods: A case of a Chinese boy with APRT defi ciencypresenting with severe acute kidney injury secondaryto obstructive uropathy from multiple renal calculi wasreviewed.Results: The patient underwent staged removal of thecalculi. Infrared spectrometry of the renal calculi showed2,8-dihydroxyadenine. APRT deficiency was confirmedwith abolished APRT enzyme activity in red blood cells.He was started on allopurinol and low purine diet withcomplete resolution of the residual calculi.Conclusion: APRT defi ciency should be considered inpatients with multiple radiolucent renal calculi.

Identification of a candidate QTG for seed number per silique by integrating QTL mapping and RNA-seq in Brassica napus L.

Seed number per silique(SNPS)is one of seed yield components in rapeseed,but its genetic mechanism remains elusive.Here a double haploid(DH)population derived from a hybrid between female 6Q006with 35–40 SNPS and male 6W26 with 10–15 SNPS was investigated for SNPS in the year 2017,2018,2019 and 2021,and genotyped with Brassica 60K Illumina Infinium SNP array.An overlapping major QTL(qSNPS.C09)explaining 51.50%of phenotypic variance on average was narrowed to a 0.90 Mb region from 44.87 Mb to 45.77 Mb on chromosome C09 by BSA-seq.Subsequently,two DEGs in this interval were detected between extreme individuals in DH and F_2populations by transcriptome sequencing at7 and 14 days after pollination siliques.Of which,BnaC09g45400D encoded an adenine phosphoribosyltransferase 5(APT5)has a 48-bp InDel variation in the promoter of two parents.Candidate gene association analysis showed that this InDel variation was associated with SNPS in a nature population of rapeseed,where 54 accessions carrying the same haplotype as parent 6Q006 had higher SNPS than103 accessions carrying the same haplotype as parent 6W26.Collectively,the findings are helpful for rapeseed molecular breeding of SNPS,and provide new insight into the genetic and molecular mechanism of SNPS in rapeseed.