Expansion load : recessive mutations and 1 the role of standing genetic variation 2 3 4
نویسندگان
چکیده
3 4 Stephan Peischl, Laurent Excoffier 5 6 1 Institute of Ecology and Evolution, University of Berne, 3012 Berne, Switzerland 7 2 Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland 8 9 Email addresses of authors: 10 [email protected], [email protected] 11 12 Corresponding author: 13 Stephan Peischl 14 Institute of Ecology and Evolution 15 University of Bern 16 Baltzerstrasse 6 17 CH-3012 Bern 18 Switzerland 19 20 Phone: +41 31 631 30 36 Fax: +41 31 631 48 88 21
منابع مشابه
Expansion load: recessive mutations and the role of standing genetic variation.
Expanding populations incur a mutation burden - the so-called expansion load. Previous studies of expansion load have focused on codominant mutations. An important consequence of this assumption is that expansion load stems exclusively from the accumulation of new mutations occurring in individuals living at the wave front. Using individual-based simulations, we study here the dynamics of stand...
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Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...
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Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...
متن کاملAdaptation from standing genetic variation.
Populations adapt to novel environments in two distinct ways: selection on pre-existing genetic variation and selection on new mutations. These alternative sources of beneficial alleles can result in different evolutionary dynamics and distinct genetic outcomes. Compared with new mutations, adaptation from standing genetic variation is likely to lead to faster evolution, the fixation of more al...
متن کاملInvestigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
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