A microchromosome is a type of very small chromosome which is a typical component of the karyotype of birds, some reptiles, fish, and amphibians; they tend to be absent in mammals. They are less than 20 Mb in size; chromosomes which are greater than 40 Mb in size are known as macrochromosomes, while those between 20 and 40 Mb are classified as intermediate chromosomes. Microchromosomes are characteristically very small and often cytogenetically indistinguishable in a karyotype. While originally thought to be insignificant fragments of chromosomes, in species where they have been studied they have been found to be rich in genes. In chickens, microchromosomes have been estimated to contain between 50 and 75% of all genes. The presence of microchromosomes makes ordering and identifying chromosomes into a coherent karyotype particularly difficult. During metaphase, they appear merely as 0.5-1.5 μm long specks. Their small size and poor condensation into heterochromatin means they generally lack the diagnostic banding patterns and distinct centromere locations used for chromosome identification.
Birds (except Falconiformes) usually have karyotypes of approximately 80 chromosomes (2n = 80), with only a few being distinguishable macrochromosomes and an average of 60 being microchromosomes. They are more abundant in avians than any other group of animals. Chickens (Gallus gallus) are an important model organism for studying microchromosomes. Examination of microchromosomes in birds has led to the hypotheses that they may have originated as conserved fragments of ancestral macrochromosomes, and conversely that macrochromosomes could have arisen as aggregates of microchromosomes. Comparative genomic analysis shows that microchromosomes contain genetic information which has been conserved across multiple classes of chromosomes. This indicates that at least ten chicken microchromosomes arose from fission of larger chromosomes and that the typical bird karyotype arose 100-250 mya.
Chickens have a diploid number of 78 (2n = 78) chromosomes, and as is usual in birds, the majority are microchromosomes. Classification of chicken chromosomes varies by author. Some classify them as 8 pairs of macrochromosomes, one pair of sex chromosomes, with the remaining 32 pairs being intermediate or microchromosomes. Other arrangements such as that used by the International Chicken Genome Sequencing Consortium include five pairs of macrochromosomes, five pairs of intermediate chromosomes, and twenty-eight pairs of microchromosomes. Microchromosomes represent approximately one third of the total genome size, and have been found to have a much higher gene density than macrochromosomes. Because of this, it is estimated that the majority of genes are located on microchromosomes, though due to the difficulty in physically identifying microchromosomes and the lack of microsatellite markers, it has been difficult to place genes on specific microchromosomes.
Replication timing and recombination rates have been found to differ between microchromosomes and macrochromosomes in chickens. Microchromosomes replicate earlier in the S phase of interphase than macrochromosomes. Recombination rates have also been found to be higher on microchromosomes. Possibly due to the high recombination rates, chicken chromosome 16 (a microchromosome) has been found to contain the most genetic diversity of any chromosome in certain chicken breeds. This is likely due to the presence on this chromosome of the major histocompatibility complex (MHC).
For the many small linkage groups in the chicken genome which have not been placed on chromosomes, the assumption has been made that they are located on the microchromosomes. Interestingly, groups of these correspond almost exactly with large sections of certain human chromosomes. For example linkage groups E29C09W09, E21E31C25W12, E48C28W13W27, E41W17, E54 and E49C20W21 correspond with chromosome 7.
The turkey has a diploid number of 80 (2n = 80) chromosomes. The karyotype contains an additional chromosomal pair relative to the chicken due to the presence of at least two fission/fusion differences (GGA2 = MGA3 and MGA6 and GGA4 = MGA4 and MGA9). Given these differences involving the macrochromosomes, an additional fission/fusion must also exist between the species involving the microchromosomes if the diploid numbers are valid. Other rearrangements have been identified through comparative genetic maps, physical maps and whole genome sequencing.
In humans and other animals
In rare cases, microchromosomes have been observed in the karotypes of individual humans. A link has been suggested between microchromosome presence and certain genetic disorders like Down syndrome and fragile X syndrome. The smallest chromosome in humans is normally chromosome 21, which is 47 Mb.
- Fillon, Valérie (1998). "The chicken as a model to study microchromosomes in birds: a review". Genetics Selection Evolution 30 (3): 209–19. doi:10.1186/1297-9686-30-3-209.
- Axelsson, Erik; Webster, Matthew T.; Smith, Nick G. C.; Burt, David W.; Ellegren, Hans (2005). "Comparison of the chicken and turkey genomes reveals a higher rate of nucleotide divergence on microchromosomes than macrochromosomes". Genome Research 15 (1): 120–5. doi:10.1101/gr.3021305. PMC 540272. PMID 15590944.
- McQueen, Heather A.; Siriaco, Giorgia; Bird, Adrian P. (1998). "Chicken microchromosomes are hyperacetylated, early replicating, and gene rich". Genome Research 8 (6): 621–30. PMC 310741. PMID 9647637.
- Burt, D.W. (2002). "Origin and evolution of avian microchromosomes". Cytogenetic and Genome Research 96 (1–4): 97–112. doi:10.1159/000063018. PMID 12438785.
- Groenen, Martien A. M.; Cheng, Hans H.; Bumstead, Nat; Benke, Bernard F.; Briles, W. Elwood; Burke, Terry; Burt, Dave W.; Crittenden, Lyman B. et al. (2000). "A consensus linkage map of the chicken genome". Genome Research 10 (1): 137–47. PMC 310508. PMID 10645958.
- Ka-Shu Wong, Gane; Liu, Bin; Wang, Jun; Zhang, Yong; Yang, Xu; Zhang, Zengjin; Meng, Qingshun; Zhou, Jun et al. (2004). "A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms". Nature 432 (7018): 717–22. doi:10.1038/nature03156. PMC 2263125. PMID 15592405.
- Reed, K.M.; Chaves, L.D.; Mendoza, K.M. (2007). "An integrated and comparative genetic map of the turkey genome". Cytogenetic and Genome Research 119 (1–2): 113–26. doi:10.1159/000109627. PMID 18160790.
- Roberts, Richard J.; Dalloul, Rami A.; Long, Julie A.; Zimin, Aleksey V.; Aslam, Luqman; Beal, Kathryn; Ann Blomberg, Le; Bouffard, Pascal et al. (2010). "Multi-Platform Next-Generation Sequencing of the Domestic Turkey (Meleagris gallopavo): Genome Assembly and Analysis". PLoS Biology 8 (9): e1000475. doi:10.1371/journal.pbio.1000475. PMC 2935454. PMID 20838655.
- Ramos, C; Rivera, L; Benitez, J; Tejedor, E; Sanchez-Cascos, A (1979). "Recurrence of Down's syndrome associated with microchromosome". Human Genetics 49 (1): 7–10. PMID 157321.
- López-Pajares, I.; Delicado, A.; Pascual-Castroviejo, I.; López-Martin, V.; Moreno, F.; Garcia-Marcos, J. A. (2008). "Fragile X syndrome with extra microchromosome". Clinical Genetics 45 (4): 186–9. doi:10.1111/j.1399-0004.1994.tb04020.x. PMID 8062436.