Genomic evolution and polymorphism: Segmental duplications and haplotypes at 108 regions on 21 chromosomes

التفاصيل البيبلوغرافية
العنوان: Genomic evolution and polymorphism: Segmental duplications and haplotypes at 108 regions on 21 chromosomes
المؤلفون: John A. Millman, Joseph F. Williamson, Brent J. Stewart, Craig A. McLure, Peter J. Keating, Roger L. Dawkins, Peter Hinchliffe, Susan C. Lester
المصدر: Genomics. (1):15-26
بيانات النشر: Elsevier Inc.
مصطلحات موضوعية: DNA Copy Number Variations, Evolution, Segmental duplication, Major histocompatibility complex, Chromosomes, Evolution, Molecular, Segmental Duplications, Genomic, Polymorphism (computer science), Gene duplication, Genetics, Humans, Complex disease, Conserved Sequence, Autosome, biology, Genome, Human, Haplotype, Phenotype, Ancestral haplotypes, Haplotypes, Gene Copy Number Variation, Conserved polymorphism, biology.protein, Epistasis
الوصف: We describe here extensive, previously unknown, genomic polymorphism in 120 regions, covering 19 autosomes and both sex chromosomes. Each contains duplication within multigene clusters. Of these, 108 are extremely polymorphic with multiple haplotypes. We used the genomic matching technique (GMT), previously used to characterise the major histocompatibility complex (MHC) and regulators of complement activation (RCA). This genome-wide extension of this technique enables the examination of many underlying cis , trans and epistatic interactions responsible for phenotypic differences especially in relation to individuality, evolution and disease susceptibility. The extent of the diversity could not have been predicted and suggests a new model of primate evolution based on conservation of polymorphism rather than de novo mutation.
اللغة: English
تدمد: 0888-7543
DOI: 10.1016/j.ygeno.2013.02.011
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bca2c483464e3fba6194cc123abace2Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....6bca2c483464e3fba6194cc123abace2
قاعدة البيانات: OpenAIRE
الوصف
تدمد:08887543
DOI:10.1016/j.ygeno.2013.02.011