ESTEEM

Overview

The Chromosome Theory of Inheritance, enunciated by Walter Sutton (1903) and Theodor Boveri (1904), establishes that chromosomes physically carry genes at specific positions. This theory was later experimentally confirmed in Drosophila melanogaster by Thomas H. Morgan (1910). Nowadays, it is possible to identify the position of any particular sequence in a chromosome (or assembled DNA sequence) using coordinates (i.e. chromosome number, start and stop positions, and assembly version). This workbook allows the user to construct idiograms (haploid or diploid), map sequences onto them, depict chromosome structural mutations (aneuploidies, inversions, translocations…), and perform side-by-side comparative analyses of idiograms belonging to related species. 

Popular Text Citations

Online Mendelian Inheritance in Man (OMIM). (2022). An online catalog of human genes and genetic disorders. Johns Hopkins University. https://omim.org

O’Connor, C. (2008). Chromosome mapping: Idiograms. Nature Education, 1(1), 107.

O'Connor, C. & Miko, I. (2008). Developing the chromosome theory. Nature Education 1(1):44.

Data Sources

Human chromosome sizes were retrieved from: https://www.ncbi.nlm.nih.gov/grc/human/data

The list of genes in human chromosome 2 was obtained from: https://en.wikipedia.org/wiki/Chromosome_2

Telomere coordinates and combined centromere regions were retrieved from: https://blog.gene-test.com/telomeric-regions-of-the-human-genome/

Coordinates of the relic centromeric region in human chromosome 2 (2q21.2; GRCh38) were obtained from: Miga K.H. (2017). Chromosome-specific centromere sequences provide an estimate of the ancestral chromosome 2 fusion event in hominin genomes. Journal of Heredity, 45-52 (doi:10.1093/jhered/esw039).

The information about the position of relic telomere in human chromosome 2 (2q13; GRCh38) was retrieved from: Azzalin C.M., Nergadze S.G. & Giulotto E. (2001). Human intrachromosomal telomeric-like repeats: sequence organization and mechanisms of origin. Chromosoma, 110:75-82 (doi:10.1007/s004120100135).

Chimpanzee centromeres, 2q13, ABCA12 and ALMS1 coordinates were retrieved from UCSC Genome Browser: https://genome.ucsc.edu/
 

Education Research & Pedagogical Materials

Gálvez Salido A. & Navajas-Pérez R. (2022). Using Excel Mapper to Design Chromosome Idiograms. The American Biology Teacher, 84(7): 396–398.

Tutorial & Background Materials

Excel Mapper + Tutorial | Constructing different types of idiograms and performing synteny analyses

Citation