In his past work, Hammer has studied an Alu sequence
that in some men sits at a particular site on the Y chromosome.
According to the genotyped result (34), sample CN1 has a heterozygous de novo Alu sequence
(approximately 483 bp) inserted 44 bp upstream of exon 42 and immediately adjacent to a poly (A/T) stretch, which causes deletion of the downstream exons during splicing.
YAP is an Alu sequence
that hopped to a specific site on the Y chromosome at a relatively recent moment in human evolution.
Now, for the first time, geneticists have shown that an Alu sequence
can wrggle out of its usual place between genes and splice itself into a working gene, causing a disease, says Collins.
We identified an abnormal sequence inserted in exon 2 as an Alu sequence
and a direct repeat (300 + 15 bp).
was also measured by HPA, using a probe: 5'-TGT AAT CCC A*GC ACT TTG GGA GGC-3', where * indicates the AE position.
The ACE diallelic polymorphism was genotyped by polymerase chain reaction for amplification of the variable segment, located in a repetitive Alu sequence
in intron 16; resolution of the 190- and 490-bp alleles on 1.5% agarose gel was as described (7).
A confirmatory PCR method, which requires an additional third PCR primer inside the Alu sequence
of the I allele, was proposed to minimize the mistyping of the I allele as a D allele (9).
Line-mediated retrotransposition of marked Alu sequences
. Nat Genet 2003;35:41-8.
The non-coding regions are characterized by many types of repeated DNA sequences, where 10.6% consists of Alu sequences
, a type of SINE (short and dispersed repeated elements) sequence and preferentially located towards the genes.
Osenberg et al., "Alu Sequences
in Undifferentiated Human Embryonic Stem Cells Display High Levels of A-to-I RNA Editing," PLOS One 5, no.