Literature DB >> 12909362

In polymorphic genomic regions indels cluster with nucleotide polymorphism: Quantum Genomics.

Natalie Longman-Jacobsen1, Joseph F Williamson, Roger L Dawkins, Silvana Gaudieri.   

Abstract

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.

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Year:  2003        PMID: 12909362     DOI: 10.1016/s0378-1119(03)00621-8

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  14 in total

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Journal:  Proc Natl Acad Sci U S A       Date:  2010-07-06       Impact factor: 11.205

2.  Extensive genomic and functional polymorphism of the complement control proteins.

Authors:  Craig A McLure; Joseph F Williamson; Louise A Smyth; Suraksha Agrawal; Susan Lester; John A Millman; Peter J Keating; Brent J Stewart; Roger L Dawkins
Journal:  Immunogenetics       Date:  2005-11-11       Impact factor: 2.846

Review 3.  On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Authors:  David N Cooper; Albino Bacolla; Claude Férec; Karen M Vasquez; Hildegard Kehrer-Sawatzki; Jian-Min Chen
Journal:  Hum Mutat       Date:  2011-09-02       Impact factor: 4.878

4.  Genomic analysis reveals a duplication of eight rather than seven short consensus repeats in primate CR1 and CR1L: evidence for an additional set shared between CR1 and CR2.

Authors:  C A McLure; J F Williamson; B J Stewart; P J Keating; R L Dawkins
Journal:  Immunogenetics       Date:  2004-10-30       Impact factor: 2.846

5.  Missingness in the T1DGC MHC fine-mapping SNP data: association with HLA genotype and potential influence on genetic association studies.

Authors:  I James; E McKinnon; S Gaudieri; G Morahan
Journal:  Diabetes Obes Metab       Date:  2009-02       Impact factor: 6.577

6.  Molecular hyperdiversity and evolution in very large populations.

Authors:  Asher D Cutter; Richard Jovelin; Alivia Dey
Journal:  Mol Ecol       Date:  2013-03-18       Impact factor: 6.185

7.  A highly annotated whole-genome sequence of a Korean individual.

Authors:  Jong-Il Kim; Young Seok Ju; Hansoo Park; Sheehyun Kim; Seonwook Lee; Jae-Hyuk Yi; Joann Mudge; Neil A Miller; Dongwan Hong; Callum J Bell; Hye-Sun Kim; In-Soon Chung; Woo-Chung Lee; Ji-Sun Lee; Seung-Hyun Seo; Ji-Young Yun; Hyun Nyun Woo; Heewook Lee; Dongwhan Suh; Seungbok Lee; Hyun-Jin Kim; Maryam Yavartanoo; Minhye Kwak; Ying Zheng; Mi Kyeong Lee; Hyunjun Park; Jeong Yeon Kim; Omer Gokcumen; Ryan E Mills; Alexander Wait Zaranek; Joseph Thakuria; Xiaodi Wu; Ryan W Kim; Jim J Huntley; Shujun Luo; Gary P Schroth; Thomas D Wu; HyeRan Kim; Kap-Seok Yang; Woong-Yang Park; Hyungtae Kim; George M Church; Charles Lee; Stephen F Kingsmore; Jeong-Sun Seo
Journal:  Nature       Date:  2009-07-08       Impact factor: 49.962

8.  The genomic landscape of short insertion and deletion polymorphisms in the chicken (Gallus gallus) Genome: a high frequency of deletions in tandem duplicates.

Authors:  Mikael Brandström; Hans Ellegren
Journal:  Genetics       Date:  2007-05-16       Impact factor: 4.562

9.  Important role of indels in somatic mutations of human cancer genes.

Authors:  Haiwang Yang; Yan Zhong; Cheng Peng; Jian-Qun Chen; Dacheng Tian
Journal:  BMC Med Genet       Date:  2010-09-01       Impact factor: 2.103

10.  Fine-scale signatures of molecular evolution reconcile models of indel-associated mutation.

Authors:  Richard Jovelin; Asher D Cutter
Journal:  Genome Biol Evol       Date:  2013       Impact factor: 3.416

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