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Wheat domestication and subsequent genetic improvement have yielded cultivated species with larger seeds compared to wild ancestors. Increasing thousand kernel weight (TKW) remains a crucial goal in many wheat breeding programs. To identify genomic regions influencing TKW across diverse genetic populations, we performed a comprehensive meta-analysis of quantitative trait loci (MQTL), integrating 993 initial QTL from 120 independent mapping studies over recent decades. We refined 242 loci into 66 MQTL, with an average confidence interval (CI) 3.06 times smaller than that of the original QTL. In these 66 MQTL regions, a total of 4,913 candidate genes related to TKW were identified, involved in ubiquitination, phytohormones, G-proteins, photosynthesis, and microRNAs. Expression analysis of the candidate genes showed that 95 were specific to grain and might potentially affect TKW at different seed development stages. These findings enhance our understanding of the genetic factors associated with TKW in wheat, providing reliable MQTL and potential candidate genes for genetic improvement of this trait.

Wheat is a significant source of protein and starch worldwide. The defective kernel (Dek) mutant AK-3537, displaying a large hollow area in the endosperm and shrunken grain, was obtained through ethyl methane sulfonate (EMS) treatment of the wheat cultivar Aikang 58 (AK58). The mode of inheritance of the AK-3537 grain Dek phenotype was determined to be recessive with a specific statistical significance level. We used bulked segregant RNA-seq (BSR-seq), BSA-based exome capture sequencing (BSE-seq), and the ΔSNP-index algorithm to identify candidate regions for the grain Dek phenotype. Two major candidate regions, DCR1 (Dek candidate region 1) and DCR2, were identified on chromosome 7A between 279.98 and 287.93 Mb and 565.34 and 568.59 Mb, respectively. Based on transcriptome analysis and previous reports, we designed KASP genotyping assays based on SNP variations in the candidate regions and speculated that the candidate gene is TraesCS7A03G0625900 (HMGS-7A), which encodes a 3-hydroxy-3-methylglutaryl-CoA synthase. One SNP variation located at position 1,049 in the coding sequence (G>A) causes an amino acid change from Gly to Asp. The research suggests that functional changes in HMGS-7A may affect the expression of key enzyme genes involved in wheat starch syntheses, such as GBSSII and SSIIIa.