Knief U, Kempenaers B, Forstmeier W
Department of Behavioural Ecology and Evolutionary Genetics, Max Planck Institute for Ornithology, Seewiesen, Germany.
Heredity (Edinb). 2017 Mar;118(3):239-248. doi: 10.1038/hdy.2016.95. Epub 2016 Nov 2.
The proportion of an individual's genome that is identical by descent (GWIBD) can be estimated from pedigrees (inbreeding coefficient 'Pedigree F') or molecular markers ('Marker F'), but both estimators come with error. Assuming unrelated pedigree founders, Pedigree F is the expected proportion of GWIBD given a specific inbreeding constellation. Meiotic recombination introduces variation around that expectation (Mendelian noise) and related pedigree founders systematically bias Pedigree F downward. Marker F is an estimate of the actual proportion of GWIBD but it suffers from the sampling error of markers plus the error that occurs when a marker is homozygous without reflecting common ancestry (identical by state). We here show via simulation of a zebra finch and a human linkage map that three aspects of meiotic recombination (independent assortment of chromosomes, number of crossovers and their distribution along chromosomes) contribute to variation in GWIBD and thus the precision of Pedigree and Marker F. In zebra finches, where the genome contains large blocks that are rarely broken up by recombination, the Mendelian noise was large (nearly twofold larger s.d. values compared with humans) and Pedigree F thus less precise than in humans, where crossovers are distributed more uniformly along chromosomes. Effects of meiotic recombination on Marker F were reversed, such that the same number of molecular markers yielded more precise estimates of GWIBD in zebra finches than in humans. As a consequence, in species inheriting large blocks that rarely recombine, even small numbers of microsatellite markers will often be more informative about inbreeding and fitness than large pedigrees.
个体基因组中通过血缘相同(GWIBD)的比例可以从系谱(近亲繁殖系数“系谱F”)或分子标记(“标记F”)来估计,但这两种估计方法都存在误差。假设系谱创建者无亲缘关系,系谱F是给定特定近亲繁殖格局下GWIBD的预期比例。减数分裂重组会在该预期值周围引入变异(孟德尔噪声),并且有亲缘关系的系谱创建者会系统性地使系谱F向下偏差。标记F是对GWIBD实际比例的估计,但它存在标记的抽样误差,以及当一个标记是纯合子时未反映共同祖先(状态相同)而产生的误差。我们在此通过对斑胸草雀和人类连锁图谱的模拟表明,减数分裂重组的三个方面(染色体的独立分配、交叉的数量及其沿染色体的分布)会导致GWIBD的变异,从而影响系谱F和标记F的精度。在斑胸草雀中,其基因组包含很少被重组打断的大片段,孟德尔噪声很大(标准差数值几乎是人类的两倍),因此系谱F的精度低于人类,在人类中交叉更均匀地分布在染色体上。减数分裂重组对标记F的影响则相反,即相同数量的分子标记在斑胸草雀中对GWIBD的估计比在人类中更精确。因此,在继承很少重组的大片段的物种中,即使是少量的微卫星标记通常也比大的系谱在近亲繁殖和适应性方面提供更多信息。