In polymorphic genomic regions indels cluster with nucleotide polymorphism: Quantum Genomics.
Previously, we have described polymorphic frozen blocks (PFBs) within the Major Histocompatibility Complex (MHC) as regions of several hundred kilobases characterised by high nucleotide diversity, little or no recombination, duplicated segments, disease susceptibility, and human endogenous retroviruses. The nucleotide diversity profile within these PFBs shows peaks and troughs outside of the Class I genes, reflecting other important genes (or sequences) in the region. Here we show that indel density is also clustered with similar peaks and troughs. In fact, SNPs and indels are co-located within PFBs.
Longman-Jacobsen
Natalie
N
Centre for Molecular Immunology and Instrumentation, University of Western Australia, P.O. Box 5100, Canning Vale South, Western Australia 6155, Australia.
Williamson
Joseph F
JF
Dawkins
Roger L
RL
Gaudieri
Silvana
S
D030561:Databases, Nucleic Acid; D005787:Gene Frequency; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D008285:Major Histocompatibility Complex / Q000235:genetics; D016254:Mutagenesis, Insertional; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion