Chromosome Classes Research Articles

Chromosome analysis method based on deep learning: Counting chromosomes and detecting abnormal chromosomes

Karyotype analysis is a cytogenetic test method that counts chromosomes and evaluates their structural abnormalities. However, since the processes of counting chromosomes and determining structural abnormalities are mostly performed manually, the analysis is time-consuming and labor-intensive, and the results may vary depending on the expert who performs the analysis. Therefore, studies for automating karyotype analysis have been conducted; however, most have focused on the detection of dicentric chromosomes among abnormal chromosome classes and counting the number of chromosomes. Therefore, this study proposes an automated chromosome analysis system that applies an object detection method based on deep learning to simplify chromosome analysis and derive effective results. The proposed analysis system consists of a chromosome counting system and an abnormal chromosome detection system. Additionally, to further improve the performance of the automated chromosome analysis system, convolutional spatial pooling attention and squeeze and excitation block are applied. In each proposed system, the object detection-based deep learning model detects a chromosome with a probability of 99.32%, and a chromosome abnormality with a probability of approximately 75.71%.

Triplet loss for Chromosome Classification

The analysis of chromosomes, known as karyotyping, is essential in diagnosing various human genetic disorders and chromosomal aberrations. It can detect a variety of genetic diseases and provide a deeper insight into the human body. However, the process of manual karyotyping is highly time-consuming and requires accomplished professionals with a deep understanding in the field. An automated process is thus highly desirable to assist cytogeneticists and mitigate the cognitive load procured during karyotyping. With that intention, a similarity learning approach is proposed in this paper using ‘Triplet Loss’ for procuring high-dimensional embeddings. The Offline Triplet Loss, Semi-Hard Online mining, and associated hyperparameters are thoroughly tested and explored, and the obtained embeddings are used to classify the images into their respective chromosome classes and Denver groups. A comparative analysis on various embedding-classifying algorithms such as Multi-Layer Perceptron (MLP) and Nearest Neighbours is also demonstrated in this paper, along with experiments on associated distance metrics. The proposed methodologies deliver a superlative performance when compared to a baseline Convolutional Neural Network (CNN), on a publicly available chromosome classification dataset.

Accumulation and ineffective silencing of transposable elements on an avian W Chromosome.

One of the defining features of transposable elements (TEs) is their ability to move to new locations in the host genome. To minimize the potentially deleterious effects of de novo TE insertions, hosts have evolved several mechanisms to control TE activity, including recombination-mediated removal and epigenetic silencing; however, increasing evidence suggests that silencing of TEs is often incomplete. The crow family experienced a recent radiation of LTR retrotransposons (LTRs), offering an opportunity to gain insight into the regulatory control of young, potentially still active TEs. We quantified the abundance of TE-derived transcripts across several tissues in 15 Eurasian crows (Corvus (corone) spp.) raised under common garden conditions and find evidence for ineffective TE suppression on the female-specific W Chromosome. Using RNA-seq data, we show that ∼9.5% of all transcribed TEs had considerably greater (average, 16-fold) transcript abundance in female crows and that >85% of these female-biased TEs originated on the W Chromosome. After accounting for differences in TE density among chromosomal classes, W-linked TEs were significantly more highly expressed than TEs residing on other chromosomes, consistent with ineffective silencing on the former. Together, our results suggest that the crow W Chromosome acts as a source of transcriptionally active TEs, with possible negative fitness consequences for female birds analogous to Drosophila (an X/Y system), in which overexpression of Y-linked TEs is associated with male-specific aging and fitness loss (“toxic Y”).

Long-read metagenomic sequencing reveals shifts in associations of antibiotic resistance genes with mobile genetic elements from sewage to activated sludge

BackgroundThere is concern that the microbially rich activated sludge environment of wastewater treatment plants (WWTPs) may contribute to the dissemination of antibiotic resistance genes (ARGs). We applied long-read (nanopore) sequencing to profile ARGs and their neighboring genes to illuminate their fate in the activated sludge treatment by comparing their abundance, genetic locations, mobility potential, and bacterial hosts within activated sludge relative to those in influent sewage across five WWTPs from three continents.ResultsThe abundances (gene copies per Gb of reads, aka gc/Gb) of all ARGs and those carried by putative pathogens decreased 75–90% from influent sewage (192-605 gc/Gb) to activated sludge (31-62 gc/Gb) at all five WWTPs. Long reads enabled quantification of the percent abundance of ARGs with mobility potential (i.e., located on plasmids or co-located with other mobile genetic elements (MGEs)). The abundance of plasmid-associated ARGs decreased at four of five WWTPs (from 40–73 to 31–68%), and ARGs co-located with transposable, integrative, and conjugative element hallmark genes showed similar trends. Most ARG-associated elements decreased 0.35–13.52% while integrative and transposable elements displayed slight increases at two WWTPs (1.4–2.4%). While resistome and taxonomic compositions both shifted significantly, host phyla for chromosomal ARG classes remained relatively consistent, indicating vertical gene transfer via active biomass growth in activated sludge as the key pathway of chromosomal ARG dissemination.ConclusionsOverall, our results suggest that the activated sludge process acted as a barrier against the proliferation of most ARGs, while those that persisted or increased warrant further attention.CRgUGB86FqkKDWfHB8LKXnVideo abstract

Морфологическая и кариологическая характеристики линии клеток, полученной из ткани почки мыши

The article presents the results of a study of the morphological and cardiological characteristics of the mouse kidney cell line (PM). Earlier, the authors obtained a primary cell culture from mouse kidney tissue, which gave rise to a cell line. The culture of PM cells has passed more than 150 passages. The authors studied how the cytomorphological and karyological characteristics of this cell line have changed. It is known that the time of transition of diploid cultures to a permanent cell line is the period when the modal class of chromosomes decreases or increases by 1–3 chromosomes. By studying the karyotype of mouse kidney cells, it was found that at the level of 150 passages, the cells retained a diploid set of chromosomes. The modal class of the culture has not been changed, but there is a shift towards an increase in the number of hyperploid cells. The morphology of PM cells remains homogeneous epithelial, the cell nuclei are large rounded, the structure of the nuclei is homogeneous, the cytoplasm is fine-grained, without vacuolization.

Adding the Cancer Genome Atlas Chromosome Classes to American Joint Committee on Cancer System Offers More Precise Prognostication in Uveal Melanoma

Uveal melanoma (UM) is a rare disease and the most common primary intraocular malignancy in adults, with a high risk of metastases. Reliable prognostication systems are based on anatomic features, as in the tumor-node-metastasis staging of the American Joint Committee on Cancer (AJCC) system, or on genetic information, as in The Cancer Genome Atlas (TCGA) system. Prior evidence suggests that combining both systems may be beneficial. We evaluated the benefit of combining the TCGA and AJCC systems in a large cohort of patients. Retrospective case series of patients with UM. Nine hundred seventy-nine patients with a choroidal or ciliary body melanoma treated at the Wills Eye Hospital between 1998 and 2020, 94% of whom received eye-sparing treatment. Tumors were classified into 4 TCGA groups based on chromosome copy number: A (disomy 3, normal 8q), B (disomy 3, any 8q gain), C (monosomy 3, 1 extra copy of 8q), and D (monosomy 3, multiple 8q gain). The eighth edition of the AJCC staging manual was used for AJCC staging. Cox regression and the log-rank test were used for survival analysis. Metastasis-free survival. Combining information of the 2 systems improved prognostication in intermediate groups: in TCGA group C, we saw an increased rate of metastasis in AJCC stage III (28%) compared with stage II (8.9%); the same was seen in AJCC stage II, going from TCGA group C (8.9%) to group D (46%), and in AJCC stage III, going from group C (28%) to group D (49%). In patients with AJCC stage II or III disease, loss of chromosome 3 and gain of 8q (TCGA groups C and D) significantly worsened the prognosis, with multiple 8q gain (TCGA group D) having a greater impact. Combining information from AJCC stages and TCGA groups yields a better predictive power even in this set of relatively small tumors. We propose that physicians take both systems into account whenever possible, especially in moderate-risk groups.

Automated System for Chromosome Karyotyping to Recognize the Most Common Numerical Abnormalities Using Deep Learning

Chromosome analysis is an essential task in a cytogenetics lab, where cytogeneticists can diagnose whether there are abnormalities or not. Karyotyping is a standard technique in chromosome analysis that classifies metaphase image to 24 chromosome classes. The main two categories of chromosome abnormalities are structural abnormalities that are changing in the structure of chromosomes and numerical abnormalities which include either monosomy (missing one chromosome) or trisomy (extra copy of the chromosome). Manual karyotyping is complex and requires high domain expertise, as it takes an amount of time. With these motivations, in this research, we used deep learning to automate karyotyping to recognize the common numerical abnormalities on a dataset containing 147 non-overlapped metaphase images collected from the Center of Excellence in Genomic Medicine Research at King Abdulaziz University. The metaphase images went through three stages. The first one is individual chromosomes detection using YOLOv2 Convolutional Neural Network followed by some chromosome post-processing. This step achieved 0.84 mean IoU, 0.9923 AP, and 100% individual chromosomes detection accuracy. The second stage is feature extraction and classification where we fine-tune VGG19 network using two different approaches, one by adding extra fully connected layer(s) and another by replacing fully connected layers with the global average pooling layer. The best accuracy obtained is 95.04%. The final step is detecting abnormality and this step obtained 96.67% abnormality detection accuracy. To further validate the proposed classification method, we examined the Biomedical Imaging Laboratory dataset which is publicly available online and achieved 94.11% accuracy.

Multilayered Tuning of Dosage Compensation and Z-Chromosome Masculinization in the Wood White (Leptidea sinapis) Butterfly.

In species with genetic sex determination, dosage compensation can evolve to equal expression levels of sex-linked and autosomal genes. Current knowledge about dosage compensation has mainly been derived from male-heterogametic (XX/XY) model organisms, whereas less is understood about the process in female-heterogametic systems (ZZ/ZW). In moths and butterflies, downregulation of Z-linked expression in males (ZZ) to match the expression level in females (ZW) is often observed. However, little is known about the underlying regulatory mechanisms, or if dosage compensation patterns vary across ontogenetic stages. In this study, we assessed dynamics of Z-linked and autosomal expression levels across developmental stages in the wood white (Leptidea sinapis). We found that although expression of Z-linked genes in general was reduced compared with autosomal genes, dosage compensation was actually complete for some categories of genes, in particular sex-biased genes, but equalization in females was constrained to a narrower gene set. We also observed a noticeable convergence in Z-linked expression between males and females after correcting for sex-biased genes. Sex-biased expression increased successively across developmental stages, and male-biased genes were enriched on the Z-chromosome. Finally, all five core genes associated with the ribonucleoprotein dosage compensation complex male-specific lethal were detected in adult females, in correspondence with a reduction in the expression difference between autosomes and the single Z-chromosome. We show that tuning of gene dosage is multilayered in Lepidoptera and argue that expression balance across chromosomal classes may predominantly be driven by enrichment of male-biased genes on the Z-chromosome and cooption of available dosage regulators.

Effect of aminoacyl-tRNA synthetase mutations on susceptibility to ciprofloxacin in Escherichia coli.

Chromosomal mutations that reduce ciprofloxacin susceptibility in Escherichia coli characteristically map to drug target genes (gyrAB and parCE), and genes encoding regulators of the AcrAB-TolC efflux pump. Mutations in RNA polymerase can also reduce susceptibility, by up-regulating the MdtK efflux pump. We asked whether mutations in additional chromosomal gene classes could reduce susceptibility to ciprofloxacin. Experimental evolution, complemented by WGS analysis, was used to select and identify mutations that reduce susceptibility to ciprofloxacin. Transcriptome analysis, genetic reconstructions, susceptibility measurements and competition assays were used to identify significant genes and explore the mechanism of resistance. Mutations in three different aminoacyl-tRNA synthetase genes (leuS, aspS and thrS) were shown to reduce susceptibility to ciprofloxacin. For two of the genes (leuS and aspS) the mechanism was partially dependent on RelA activity. Two independently selected mutations in leuS (Asp162Asn and Ser496Pro) were studied in most detail, revealing that they induce transcriptome changes similar to a stringent response, including up-regulation of three efflux-associated loci (mdtK, acrZ and ydhIJK). Genetic analysis showed that reduced susceptibility depended on the activity of these loci. Broader antimicrobial susceptibility testing showed that the leuS mutations also reduce susceptibility to additional classes of antibiotics (chloramphenicol, rifampicin, mecillinam, ampicillin and trimethoprim). The identification of mutations in multiple tRNA synthetase genes that reduce susceptibility to ciprofloxacin and other antibiotics reveals the existence of a large mutational target that could contribute to resistance development by up-regulation of an array of efflux pumps.

Male Mutation Bias Is the Main Force Shaping Chromosomal Substitution Rates in Monotreme Mammals.

In many species, spermatogenesis involves more cell divisions than oogenesis, and the male germline, therefore, accumulates more DNA replication errors, a phenomenon known as male mutation bias. The extent of male mutation bias (α) is estimated by comparing substitution rates of the X, Y, and autosomal chromosomes, as these chromosomes spend different proportions of their time in the germlines of the two sexes. Male mutation bias has been characterized in placental and marsupial mammals as well as birds, but analyses in monotremes failed to detect any such bias. Monotremes are an ancient lineage of egg-laying mammals with distinct biological properties, which include unique germline features. Here, we sought to assess the presence and potential characteristics of male mutation bias in platypus and the short-beaked echidna based on substitution rate analyses of X, Y, and autosomes. We established the presence of moderate male mutation bias in monotremes, corresponding to an α value of 2.12–3.69. Given that it has been unclear what proportion of the variation in substitution rates on the different chromosomal classes is really due to differential number of replications, we analyzed the influence of other confounding forces (selection, replication-timing, etc.) and found that male mutation bias is the main force explaining the between-chromosome classes differences in substitution rates. Finally, we estimated the proportion of variation at the gene level in substitution rates that is owing to replication effects and found that this phenomenon can explain >68% of these variations in monotremes, and in control species, rodents, and primates.

Towards an autonomous human chromosome classification system using Competitive Support Vector Machines Teams (CSVMT)

Abstract In broad terms, karyotyping is the process of examination and classification of human chromosome images to diagnose genetic diseases and disorders. It requires time consuming manual examination of cell images by a cytogeneticist to distinguish chromosome classes from each other. Thus, a reliable autonomous human chromosome classification system not only saves time and money but also reduces errors due to the inadequate knowledge level of the expert. Human cell contains 23 pairs of chromosome, 22 autosomes and a pair of sex chromosomes. Hence, we face a multi-class classification task which represents a challenging case for any sort of classifier. In this work, to solve this classification problem, we propose a novel methodology consisting two stages: (i) data preparation and training, and (ii) testing. To determine the most informative content of the dataset several preliminary experiments are conducted and a Principal Component Analysis is done. Then, a single Support Vector Machine (SVM ij ) is trained to separate a pair of classes, (i,j) where a numerical optimization method Pattern Search (PS), is employed to find the optimal parameters for the SVM ij . Considering 22 pairs of autosomes, 22 × 22 experts are trained and optimized. The cluster of experts, we obtain is named as Competitive SVM Teams (CSVMTs) where each SVM ij competes with the others to label a new classification instance. The final output of the classifier is determined by majority voteing. The results obtained on Copenhagen dataset proves the merit of the algorithm as correct classification rates (CRR) on train and test samples are 99.55% and 97.84% respectively, which are higher than any accuracy rate achieved so far in the related literature.

Spatial ordering and abnormal optical activity of DNA liquid-crystalline dispersion particles

In our work, we investigate physicochemical and optical properties of double-strand DNA dispersions. The study of these properties is of biological interest, because it allows one to describe the characteristics of certain classes of chromosomes and DNA containing viruses. The package pattern of DNA molecules in the dispersions particles (DP) is examined. The consideration of the DNA liquid-crystalline DP optical activity based on the theory of electromagnetic wave absorption by large molecular aggregates has been performed. The investigation is also focused on various effects induced by the interaction between biological active compounds and DNA in the content of liquid-crystalline DP.

Imbalance is not an impediment: understanding the natural imbalances of Sex and B-chromosomes in species by understanding cancer karyotypes

© Nicholson This article is distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and redistribution in any medium, provided that the original author and source are credited. Cancers are defined by abnormal karyotypes, displaying ever-changing structural and numerical abnormalities. Such plasticity of the karyotype underlies the evolution of cancer cells (Navin et al. 2011, Pavelka, Rancati, and Li 2010, Lee et al. 2011, Nicholson and Duesberg 2009). Karyotype alterations are also responsible for phenotypic variation and evolution in yeast (Rancati et al. 2008, Pavelka, Rancati, and Li 2010) and arguably of species in general (King 1993, McCarthy 2008). Because the alterations in the karyotypes of cancer cells have been shown to be non-random and stable within limits (Li et al. 2009, Nicholson and Duesberg 2009, Gebhart and Liehr 2000, Mertens et al. 1997), recently it has been proposed that carcinogenesis may be a form of speciation (Duesberg et al. 2011, Vincent 2010)

Dissection of additive genetic variability for quantitative traits in chickens using SNP markers

The aim of this study was to separate marked additive genetic variability for three quantitative traits in chickens into components associated with classes of minor allele frequency (MAF), individual chromosomes and marker density using the genomewide complex trait analysis (GCTA) approach. Data were from 1351 chickens measured for body weight (BW), ultrasound of breast muscle (BM) and hen house egg production (HHP), each bird with 354 364 SNP genotypes. Estimates of variance components show that SNPs on commercially available genotyping chips marked a large amount of genetic variability for all three traits. The estimated proportion of total variation tagged by all autosomal SNPs was 0.30 (SE 0.04) for BW, 0.33 (SE 0.04) for BM, and 0.19 (SE 0.05) for HHP. We found that a substantial proportion of this variation was explained by low frequency variants (MAF <0.20) for BW and BM, and variants with MAF 0.10-0.30 for HHP. The marked genetic variance explained by each chromosome was linearly related to its length (R(2) = 0.60) for BW and BM. However, for HHP, there was no linear relationship between estimates of variance and length of the chromosome (R(2) = 0.01). Our results suggest that the contribution of SNPs to marked additive genetic variability is dependent on the allele frequency spectrum. For the sample of birds analysed, it was found that increasing marker density beyond 100K SNPs did not capture additional additive genetic variance.

Different patterns of Robertsonian fusion pairing in Bovidae and the house mouse: the relationship between chromosome size and nuclear territories

Using a dataset of karyotypic changes reported for bovids and the house mouse (Mus musculus domesticus) together with information from the cattle (Bos taurus) and mouse genomes, we examined two principal variables that have been proposed to predict chromosomal positioning in the nucleus, chromosome size and GC content. These were expected to influence the distribution of Robertsonian (Rb) fusions, the predominant mode of chromosomal change in both taxa. We found the largest chromosomes to be most frequently involved in fusions in bovids, and confirm earlier reports that chromosomes of intermediate size were the most frequent fusers in mice. We then tested whether chromosomal positioning can explain Rb fusion frequencies. We classified chromosomes into groups by size and considered the frequency of interactions between specific groups. Among the interactions, mouse chromosomes showed a slight tendency to fuse with neighbouring chromosomes, in line with expectations of chromosomal positioning, but also resembling predictions from meiotic spindle-induced bias. Bovids, on the other hand, showed no trend in interactions, with small chromosomes being the least frequent partner for all size classes. We discuss the results in terms of nuclear organization at various cell cycle stages and the proposed mechanisms of Rb fusion formation, and note that the difference can be explained by (i) considering bovid species generally to be characterized by a greater intermingling of chromosomal size classes than the house mouse, or (ii) by the vastly different timescales underpinning their evolutionary histories.

Cryptic genetic variability in Swainsona sericea (A. Lee) H. Eichler (Fabaceae): lessons for restoration

Grassland communities worldwide have been extensively modified or lost following broadscale agricultural expansion. In south-eastern Australia few natural grasslands remain, with most now being small, isolated and degraded. Conservation and restoration of grassland communities requires an understanding of the impacts of fragmentation on genetic and demographic processes. Swainsona sericea is a perennial grassland herb with conservation listing in New South Wales, Victoria and South Australia. Reproductive output, progeny fitness and genetic diversity were assessed in nine S. sericea populations occupying fragmented grasslands across the southern tablelands of New South Wales. Unexpectedly, four chromosome classes were observed among the populations (2n = 4x = 32, 2n = 10x = 80, 2n = 14x = 112, 2n = 16x = 128), suggesting a more complex taxonomy than is currently recognised. There was no association between reproductive output and population size or ploidy level whereas population size influenced the number of alleles and percentage of polymorphic loci while ploidy influenced effective alleles and expected heterozygosity. Restricted maximum likelihood analyses of progeny growth indicated that ploidy had a significant influence on height, shoot weight, shoot to root ratio and days to germination. The cytological complexity in S. sericea requires clarification, including delineating the cytological boundaries to enable land managers to include this in their conservation and management plans.

Joint segmentation and pairing of multispectral chromosome images

Automated segmentation of touching or overlapping chromosomes in a metaphase image is a critical step for computer-aided chromosomes analysis. Conventional chromosome imaging methods acquire single-band grayscale images, and such a limitation makes the separation of touching or overlapping chromosomes challenging. In the multiplex fluorescence in situ hybridization (M-FISH) technique, each class of chromosomes can bind with a different combination of fluorophores. The M-FISH technique results in multispectral chromosome images, which has distinct spectral signatures. This paper presents a novel automated chromosome analysis method to combine the pixel-level geometric and multispectral information with decision-level pairing information. Our chromosome segmentation method uses the geometric and spectral information to partition the chromosome cluster into three regions. There will be ambiguity when combining these regions into separated chromosomes by using only spectral and geometric information. Then a graph---theoretical pairing method is introduced to resolve any remaining ambiguity of the aforementioned segmentation process. Experimental results demonstrate that the proposed joint segmentation and pairing method outperforms conventional grayscale and multispectral segmentation methods in separating touching and overlapping chromosomes.

A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified or characterized by conventional banding techniques alone, and they are generally equal in size or smaller than chromosome 20 of the same metaphase spread. Small supernumerary ring chromosomes (sSRCs), a smaller class of marker chromosomes, comprise about 10% of the cases. For various reasons these marker chromosomes have been the most difficult to characterize; although specific syndromes have not yet been defined, 60% of cases are associated with an abnormal phenotype. The chromosomal material involved, the degree and tissutal distribution of mosaicism, and the possible presence of uniparental disomy, are the important factors determining whether or not the ring chromosome will give rise to symptoms. Using conventional and molecular cytogenetics approaches we identified a de novo chromosome 21 sSRC in a child with speech delay and mild intellectual disability. By using aCGH analysis and SNP arrays, we report the presence of two discontinuous regions of chromosome 21 and the paternal origin of the sSRC. A thorough neuropsychiatric evaluation is also provided. Only few other cases of complex discontinuous ring chromosomes have been described in detail.

Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images.

Karyotyping is an important process to classify chromosomes into standard classes and the results are routinely used by the clinicians to diagnose cancers and genetic diseases. However, visual karyotyping using microscopic images is time-consuming and tedious, which reduces the diagnostic efficiency and accuracy. Although many efforts have been made to develop computerized schemes for automated karyotyping, no schemes can get be performed without substantial human intervention. Instead of developing a method to classify all chromosome classes, we develop an automatic scheme to detect abnormal metaphase cells by identifying a specific class of chromosomes (class 22) and prescreen for suspicious chronic myeloid leukemia (CML). The scheme includes three steps: (1) iteratively segment randomly distributed individual chromosomes, (2) process segmented chromosomes and compute image features to identify the candidates, and (3) apply an adaptive matching template to identify chromosomes of class 22. An image data set of 451 metaphase cells extracted from bone marrow specimens of 30 positive and 30 negative cases for CML is selected to test the scheme's performance. The overall case-based classification accuracy is 93.3% (100% sensitivity and 86.7% specificity). The results demonstrate the feasibility of applying an automated scheme to detect or prescreen the suspicious cancer cases.

Comparison of linkage disequilibrium and haplotype diversity on macro- and microchromosomes in chicken

BackgroundThe chicken (Gallus gallus), like most avian species, has a very distinct karyotype consisting of many micro- and a few macrochromosomes. While it is known that recombination frequencies are much higher for micro- as compared to macrochromosomes, there is limited information on differences in linkage disequilibrium (LD) and haplotype diversity between these two classes of chromosomes. In this study, LD and haplotype diversity were systematically characterized in 371 birds from eight chicken populations (commercial lines, fancy breeds, and red jungle fowl) across macro- and microchromosomes. To this end we sampled four regions of ~1 cM each on macrochromosomes (GGA1 and GGA2), and four 1.5 -2 cM regions on microchromosomes (GGA26 and GGA27) at a high density of 1 SNP every 2 kb (total of 889 SNPs).ResultsAt a similar physical distance, LD, haplotype homozygosity, haploblock structure, and haplotype sharing were all lower for the micro- as compared to the macrochromosomes. These differences were consistent across populations. Heterozygosity, genetic differentiation, and derived allele frequencies were also higher for the microchromosomes. Differences in LD, haplotype variation, and haplotype sharing between populations were largely in line with known demographic history of the commercial chicken. Despite very low levels of LD, as measured by r2 for most populations, some haploblock structure was observed, particularly in the macrochromosomes, but the haploblock sizes were typically less than 10 kb.ConclusionDifferences in LD between micro- and macrochromosomes were almost completely explained by differences in recombination rate. Differences in haplotype diversity and haplotype sharing between micro- and macrochromosomes were explained by differences in recombination rate and genotype variation. Haploblock structure was consistent with demography of the chicken populations, and differences in recombination rates between micro- and macrochromosomes. The limited haploblock structure and LD suggests that future whole-genome marker assays will need 100+K SNPs to exploit haplotype information. Interpretation and transferability of genetic parameters will need to take into account the size of chromosomes in chicken, and, since most birds have microchromosomes, in other avian species as well.