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Article|26 Dec 2025|OPEN
Haplotype bias detection using pedigree-based transmission simulation: traces of selection that occurred in apple breeding
Hideto Mochizuki1 , Mai F. Minamikawa2 , Kosuke Hamazaki3 , Miyuki Kunihisa4 , Shigeki Moriya5 , Koji Noshita6 , Takeshi Hayashi1 , Yuichi Katayose7 , Toshiya Yamamoto4 and Hiroyoshi Iwata,1 ,
1Laboratory of Biometry and Bioinformatics, Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo, Tokyo 113-8657, Japan
2Institute for Advanced Academic Research (IAAR), Chiba University, 1-33 Yayoi, Inage, Chiba, Chiba 263-8522, Japan
3Molecular Informatics Team, RIKEN Center for Advanced Intelligence Project (AIP), RIKEN, 178-4-4 Wakashiba, Kashiwa, Chiba 277-0871, Japan
4Institute of Fruit Tree and Tea Science, National Agriculture and Food Research Organization (NARO), 2-1 Fujimoto, Tsukuba, Ibaraki 305-8605, Japan
5Institute of Fruit Tree and Tea Science, NARO, 92-24 Nabeyashiki, Shimokuriyagawa, Morioka, Iwate 020-0123, Japan
6Department of Biology, Kyushu University, 744 Motooka, Nishi-ku, Fukuoka 819-0395, Japan
7Institute of Crop Science, National Agriculture and Food Research Organization (NARO), 2-1-2 Kannondai, Tsukuba, Ibaraki 305-8518, Japan
*Corresponding author. E-mail: hiroiwata@g.ecc.u-tokyo.ac.jp

Horticulture Research 13,
Article number: uhaf349 (2026)
doi: https://doi.org/10.1093/hr/uhaf349
Views: 36

Received: 27 Feb 2025
Accepted: 09 Dec 2025
Published online: 26 Dec 2025

Abstract

Breeding perennial fruit trees like apple is constrained by long generation times and limited population sizes, which often lead to repeated use of a few elite cultivars and consequently narrow genetic diversity. To better understand how such selection processes have shaped the current genetic structure, we applied gene-drop simulations—a pedigree-based method using known parentage and genetic maps—to a curated set of 185 apple cultivars used in Japanese breeding programs, genotyped with 11 786 genome-wide single nucleotide polymorphism markers. This approach enabled us to quantify the expected distribution of founder haplotypes and identify genomic regions where observed founder haplotype frequencies significantly deviated from expectation, suggesting potential selection. Notably, biased regions overlapped with loci associated with key fruit traits, such as fructose content, exemplified by an increase in haplotypes from “Golden Delicious.” Furthermore, Gene Ontology analysis revealed enrichment for regions containing genes involved in stress-related and developmental functions, pointing to broader physiological traits under selection. Unlike traditional methods requiring phenotype data, our approach does not depend on trait measurements and can thus uncover cryptic selection signals, including traits that were not explicitly targeted during breeding. This method offers a framework for identifying overlooked genetic regions and underutilized founder alleles, which can be reintroduced to broaden the genetic base and improve breeding outcomes. Furthermore, the approach is adaptable to other perennial crops with available pedigree and genomic data. Our findings demonstrate the power of integrating pedigree structure with genomic information to reveal both historical and ongoing selection in structured breeding populations.