Genetic crossover interference in the human genome

Abstract

Positive crossover interference refers to the phenomenon that the occurrence of a crossover reduces the probability of another crossover in its vicinity. There have been studies reporting the presence of positive interference in humans. Some studies have also found evidence suggesting within and between chromosomal interference heterogeneity on some of the chromosomes. However, there has been no systematic study of interference and interference heterogeneity in the whole human genome, using pedigree data without first inferring crossovers. In this paper, we studied the Chi-square interference model and other models extensively to compare the relative performance of each of these models for accounting for interference and measuring strength of interference. Our results showed that the Chi-square model consistently fitted the data well and provided easily interpretable estimates of interference strength. The Chi-square model was then used to study interference and interference heterogeneity within and between chromosomes. We found strong evidence of positive interference in the whole human genome. Our results also indicated that the level of interference was fairly constant in most parts of the genome, but there was some evidence suggesting that the levels of interference for two of the chromosomes were different from the rest. We also found evidence of within chromosomal interference heterogeneity for several of the chromosomes.