We also performed the first example of cross validation using complementary CC resources to verify the effect of sperm curvilinear velocity from the PWK / PhJ
haplotype on chromosome 2 in an independent population across multiple generations.
SNP
haplotypes on both chromosomes 23 and 25 were homozygous in the cases and had frequencies of 0.36 and 0.29, respectively, in the unaffected individuals.
We identified two pairs of closely related
haplotypes on each of the two most remote islands in the archipelago (San Nicolas and San Clemente), which indicates in situ evolution of island fox genetic variation.
Not exact matches
Possibly more telling, the deer found
on the Outer Hebrides don't sport the
haplotypes found
on the Scottish mainland or
on the isles of the Inner Hebrides (which are within swimming distance of the mainland, Stanton notes).
All 10 of the novel
haplotypes were found
on the outer Scottish islands.
(Previous studies have shown that
haplotype patterns differ in part based
on ancestry.)
When we noticed a big region with special pattern
on the
haplotype figure of chromosome X, we knew something must be there.»
Notably, an exceptionally large (14 Mb) and low - recombination region
on the X chromosome appeared to have two distinct
haplotypes in the high - and low - latitude populations, which may be possibly responsible for adaptations to cold and hot environments respectively.
The process of figuring out which of these genetic differences lie
on each chromosome is called
haplotyping, and it's an important step toward identifying which version of a gene may cause disease.
The alleles in question were found
on two different
haplotypes — a set of alleles inherited by an individual from a single parent — in unrelated individuals.
Many of the allelic effects in the QTL were driven by the two founders with underrepresented subspecific origins, including a QTL
on chromosome X for infertility that was driven by the PWK / PhJ
haplotype.
Altogether, the
haplotypes of the three ancient samples were classified as either dog or wolf - like for 18 matrices that showed clear distinction between dog and wild canid
haplotypes based
on average reference allele counts calculated per window.
By identifying
haplotypes from single - molecule reads, the authors were able to construct phylogenetic trees of the leukemic cells in a single patient, something that could only be done
on the 454 platform.
On detecting incomplete soft or hard selective sweeps using
haplotype structure.
Given what we expect to be strong purifying selection acting to reduce diversity
on the Y, the same arguments, of ancient population structure or even archaic introgression may still apply to this unique Y
haplotype.
On detecting incomplete soft or hard selective sweeps using
haplotype structure Ferrer - Admetlla, A., M. Liang, T. Korneliussen, and R. Nielsen.
The genetic markers
on high - density SNP arrays are carefully chosen to capture (or «tag») most common
haplotypes in human populations.
Variations in this marker allowed them to determine which two of the parents» four genes were passed
on to children suffering from ADHD, a technique known as
haplotype - based
haplotype relative risk analysis.
Analysis of a linkage peak
on chromosome 13 with a dense set of SNPs (single nucleotide polymorphisms) revealed a four - SNP
haplotype spanning the gene encoding FLAP (ALOX5AP) that confers an approximately twofold increased risk of myocardial infarction, or heart attack.
This analysis showed differential expression associated with the
haplotypes at both loci, suggesting the risk
haplotypes are associated with an effect
on T - cell response.
We found no coding mutations that followed the risk or non-risk
haplotypes suggesting that regulatory mutations exert the effect
on disease.
On further culture or after subcloning this ES cell line at various times (passages), this particular mtDNA
haplotype showed essentially random drift, with cells carrying anything from 0 to 100 %.
Genetic variation at the eNOS locus is associated with diabetes, which may be attributable to an enhanced effect of total energy expenditure
on glucose disposal in individuals with specific eNOS
haplotypes.
The functional effect of genetic variants is not a binary or a constant phenomenon, but depends
on the context of the variant — including the cell type, external environment, and the genomic environment of other variants in the genome and the
haplotype.
Assignment of alleles to
haplotypes for nearly all the variants
on all chromosomes can be performed by genetic analysis of a nuclear family with three or more children.
Back in 2010, Goldstein and colleagues proposed the concept of «synthetic association» — the idea that common GWAS signals may be due to individually rare causal variants which cluster
on certain common
haplotypes.
The maize reference genome and the
haplotype map are published online today ahead of print in the journal Science, in addition to a supplementary poster
on the maize genome placing the plant and the sequencing project in historical and cultural perspective.
Because the polyT repeat is reported as the key variant to define TOMM40 clades A and B, 12 we used this marker and APOE isoform information to perform analyses based
on phylogenetic groups as described by Roses et al. 12
Haplotype phase was estimated using PHASE software.22 The phylogeny, which represents the evolutionary relatedness of the haploytpes, was estimated using neighbor - joining with 10 000 bootstrapping replicates in the CLC DNA workbench (CLC bio, Aarhus, Denmark)(Supplemental Figure 3; http://neuroscienceresearch.wustl.edu/Pages/cruchaga2011.aspx).
We found that light skin associated variant of SLC24A5, shared by West Eurasians and South Asians occur
on the same
haplotype background.
Polymorphisms in five of 15 genes (33 %) encoding molecules known to primarily influence pancreatic beta - cell function - ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4alpha), and INS (insulin)- significantly altered disease risk, and in three genes, the risk allele,
haplotype, or both had a biologically consistent effect
on a relevant physiological trait in the QT study.
Overall, our results suggest that iAI may not represent the full picture of positive selection
on archaically introgressed
haplotypes in humans and that more work needs to be done to analyze the role of SI in the archaic introgression landscape of living humans.
For efficient mapping of these mutants and mutation identification, we devised a new mapping strategy based
on identification of mutant - specific
haplotypes.
We define these cases as distinct from instances of selection
on standing introgressed variation (SI), in which an introgressed
haplotype initially segregated neutrally and subsequently underwent positive selection.
When Dr. Foley approached me to see if I was interested in the program coordinator position, I was working as postgraduate researcher
on a project to identify the origins of the domestic dog through Y chromosome
haplotype analysis.
Specific assortments of MHC alleles, comparable to 7 beads of different colors
on a string, constitute a
haplotype.
Doing a genetic test and subsequently eliminating an individual from the breeding population may not be the best strategy, as by targeting a particular allele at one genetic locus for removal from the gene pool of a particular breed, breeders may in fact increase allele frequency of genetic variants
on alternative
haplotypes at the same, or a different locus, that are recessively deleterious.
This study examines genetic diversity among 102 registered English Bulldogs used for breeding based
on maternal and paternal
haplotypes, allele frequencies in 33 highly polymorphic short tandem repeat (STR) lo...
The mitogenome sequences revealed a total of 35
haplotypes with 14 found exclusively
on the islands and 21 found only in mainland California.
This might explain the presence of additional
haplotypes, especially in comparison to the population crashes and the potential loss of genetic diversity
on San Miguel and Santa Catalina.
Previous analyses using mtDNA RFLP's identified more mtDNA
haplotypes than detected by our whole mitogenome (WMG) sequencing analysis
on San Miguel (2 RFLP: 1 WMG genotypes) and Santa Catalina (3 RFLP: 2 WMG genotypes), suggesting a possible loss of mtDNA diversity
on these islands as a result of population bottlenecks over the past 25 years [15].
This prediction is of interest because
haplotype richness can be used in population dynamic modeling to inform a lower boundary
on the minimum number of whales (Nmin) that survived the exploitation bottleneck caused by commercial whaling [18].