Abundant contribution of short tandem repeats to gene expression variation in humans
نویسندگان
چکیده
منابع مشابه
Short tandem repeats and genetic variation.
Single nucleotide polymorphisms (SNPs) are widely distributed in the human genome and although most SNPs are the result of independent point-mutations, there are exceptions. When studying distances between SNPs, a periodic pattern in the distance between pairs of identical SNPs has been found to be heavily correlated with periodicity in short tandem repeats (STRs). STRs are short DNA segments, ...
متن کاملSegmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome
Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficienc...
متن کاملMutation of human short tandem repeats.
A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be verified using DNA from untransformed cells. ...
متن کاملForensic Applications of Y-Short Tandem Repeats.
Y-short tandem repeats (STRs) are located in the nonrecombining part of the Y-chromosome. Its genetic characteristics are helpful to paternity testing. The male lineage can be pursued over several generations. Since an overwhelming majority of rape or sexual assault cases involve male suspects, these markers proved to be very useful with mixed stains. Routine casework performed in our laborator...
متن کاملPolymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans
Despite representing an important source of genetic variation, tandem repeats (TRs) remain poorly studied due to technical difficulties. We hypothesized that TRs can operate as expression (eQTLs) and methylation (mQTLs) quantitative trait loci. To test this we analyzed the effect of variation at 4849 promoter-associated TRs, genotyped in 120 individuals, on neighboring gene expression and DNA m...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Genetics
سال: 2015
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.3461