Alu elements are responsible for regulation of tissue-specific genes. They are also involved in the transcription of nearby genes and can sometimes change the way a gene is expressed. Alu elements are retrotransposons and look like DNA copies made from RNA polymerase III-encoded RNAs.
What is a Alu sequence & How many Alu sequences are there in the human genome?
Alu sequences are repetitive DNA An estimated 0.5–1.1×106 Alu sequences represent around 6–13% of human genomic DNA.
What does it mean if you have the Alu gene?
An Alu element (or simply, “Alu”) is a transposable element, also known as a “jumping gene.” Transposable elements are rare sequences of DNA that can move (or transpose) themselves to new positions within the genome of a single cell. Alu elements are about 300 bases long and are found throughout the human genome.
In what ways could the presence of an Alu sequence affect a nearby gene?
The presence of the Alu sequence caused a splicing error, which in turn caused one of the exons to be left out of the transcribed mRNA, thereby leading to a shift in the reading frame and production of an abnormal protein.
What is Alu repetitive sequence?
Alu sequences are a heterogeneous group of primate-specific interspersed repetitive DNA elements with an estimated frequency of 500000 to 1 million copies per genome.
How do Alu elements cause disease?
There are two basic mechanisms by which Alu elements contribute to disease: through insertional mutagenesis and as a large source of repetitive sequences that contribute to non-allelic homologous recombination that cause genetic deletions and duplications.
Can dimorphic Alu elements be used for DNA identification?
Our DNA fingerprinting procedure using PCR amplification of diallelic polymorphic (dimorphic) Human Specific Alu insertions, may be used as a tool for genetic mapping, to characterize populations, study human migrational patterns, and track the inheritance of human genetic disorders.
What are the possible genotypes someone can have for Alu PV92?
The PV92 genetic system has only two alleles indicating the presence (+) or absence (-) of the Alu transposable element on each of the paired chromosomes. This results in three PV92 genotypes (++, +-, or –).
What are Alu elements in the human genome?
Alu elements are the most abundant repetitive elements in the human genome; they emerged 65 million years ago from a 5′ to 3′ fusion of the 7SL RNA gene and amplified throughout the human genome by retrotransposition to reach the present number of more than one million copies.
What is Alu polymorphism?
Alu insertion polymorphisms (polymorphisms consisting of the presence/absence of an Alu element at a particular chromosomal location) offer several advantages over other nuclear DNA polymorphisms for human evolution studies.
What is Alu PV92?
The PV92 Alu insertion element belongs to the youngest subfamily of Alu sequences, the Alu Y subfamily, and, within that, to the Ya5 subfamily, which is defined by five diagnostic changes relative to the Y consensus (Batzer et al. 1996b ). The PV92 Alu insertion is most frequent in Amerindians (Novick et al.
What chromosome was used to check for the insertion of the Alu repeat in our lab class?
The three populations were tested for the presence of Alu-insertions on the 4th, 10th and 16th chromosomes. Alu elements, short interspersed elements (SINES) have been gathering within the human genome throughout the evolution of primates.
What are LINEs and SINEs in genetics?
SINEs and LINEs are short and long interspersed retrotransposable elements, respectively, that invade new genomic sites using RNA intermediates. SINEs and LINEs are found in almost all eukaryotes (although not in Saccharomyces cerevisiae) and together account for at least 34% of the human genome.
When it comes to Alu elements as disease causing Which of the following appears to be the largest risk factor?
One with 297 base pairs. When it comes to Alu elements as disease causing, which of the following appears to be the largest risk factor? The distance between the elements.
How does Alu jump?
Alu is an example of a so-called “jumping gene” – a transposable DNA sequence that “reproduces” by copying itself and inserting into new chromosome locations.
Could dimorphic Alu elements used for DNA identify ie in criminal investigations Why or why not?
Why or why not? Dimorphic Alu elements could and couldn’t be used for DNA identification because some people don’t have the Alu so you would know it was them, but they don’t do like fingerprinting.
How can Alu insertions be used to track evolution?
Alu elements have been shown to be robust markers for evolutionary and phylogenetic studies due to of their unique mechanism of insertion, which confers on each locus a genetic polarity, allowing the inference of ancestral states and sound assumptions of migration patterns.
Is STR or VNTR used in law enforcement?
DNA fingerprinting uses repetitive sequences that are highly variable, called variable number tandem repeats (VNTRs). Modern law enforcement in particular uses short tandem repeats (STRs).
What are the 3 genotypes for the Alu gene?
Members of the Alu family are short (approximately 311 base pairs) interspersed DNA elements. tPA polymorphism exhibits three different genotypes: Alu+/+ and Alu-/- homozygotes and Alu+/- heterozygote, which are based on either the insertion (I) or deletion (D) of the Alu element. The Alu+ allele is the derived allele.
What is the expected size in BP for an allele with the Alu insertion?
The sizes of the expected PCR products for the two alleles are: –Alu: 641 bp. +Alu: 941 bp.
What is the purpose of the PV92 lab?
With the PV92 PCR Informatics Kit, your students use real-world forensic techniques to extract DNA from their hair follicles or cheek cells, and then use PCR amplification and electrophoresis to fingerprint their own DNA at a specific genetic locus.
What is Alu PCR?
Alu PCR is a rapid and easy-to-perform “DNA fingerprinting” technique based on the simultaneous analysis of many genomic loci flanked by Alu repetitive elements, which allows the detection of genetic polymorphisms and mutations in human and primate genomes.
What happens when SNPs occur inside a gene?
Most commonly, SNPs are found in the DNA between genes. They can act as biological markers, helping scientists locate genes that are associated with disease. When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s function.
What is LINE1 gene?
LINE1 (also L1 and LINE-1) are class I transposable elements in the DNA of some organisms and belong to the group of long interspersed nuclear elements (LINEs). L1 comprise approximately 17% of the human genome.
How does replicative transposition differ from cut and paste transposition?
Replicative transposition is faster than cut-and-paste transposition. Replicative transposition results in multiple copies of the transposon in the DNA; cut-and-paste transposition has only one copy. Replicative transposition makes use of the enzyme transposase; cut-and-paste transposition does not.