Humangenetik at Universität Des Saarlandes | Flashcards & Summaries

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Lernmaterialien für Humangenetik an der Universität des Saarlandes

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TESTE DEIN WISSEN
Euchromatin
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TESTE DEIN WISSEN
  • Condensed during mitosis
  • Genes
  • Transcriptionally active
Lösung ausblenden
TESTE DEIN WISSEN
Classification of eukaryotic DNA
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TESTE DEIN WISSEN
  • Genes
  • Spacer DNA
  • Repetitive DNA
Lösung ausblenden
TESTE DEIN WISSEN
Nuclear genome
(size, DNA molecules per cell, associated protein, number of genes, gene density, repetitive DNA, Transcription, introns, portion of coding, recombination, inheritance)
Lösung anzeigen
TESTE DEIN WISSEN
  • Size: 3500 MB
  • DNA molecules per cell: 23 in XX; 24 in XY, all linear
  • Asociated protein: several classes of histone- and non-histone proteins
  • number of genes: about 23000
  • Gene density: 1 in 40kb
  • Repetitive DNA: large portion
  • transcription: predominantly separate transcription of genes
  • introns: present in most genes
  • portion of coding: about 2%
  • recombination: during meiosis at least 1x for each homologous pair
  • Inheritance: Mendelian inheritance for autonomes and X, paternal inheritance of Y
Lösung ausblenden
TESTE DEIN WISSEN
Mitochondrial genome
(size, DNA molecules per cell, associated proteins, number of genes, gene density, repetitive DNA, transcription, introns, portion of coding, recombination, inheritance)
Lösung anzeigen
TESTE DEIN WISSEN
  • Size: 16.6 MB
  • DNA molecules per cell: one circular DNA molecule
  • associated protein: predominantly free of proteins
  • number of genes: 37
  • Gene density: 1 in 0.45 kb
  • repetitive DNA: Minor Portion 
  • transcription: continuous Transcription of multiple genes
  • introns: none
  • portion of coding: about 93%
  • recombination: none
  • inheritance: maternal inheritance
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TESTE DEIN WISSEN
Stable and mobile elements
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TESTE DEIN WISSEN
Stable:
Highly repetitive: 
  • satellite DNA

tandem repeats:
  • minisatellites (telomeres; subtelomeres; hypervariable families (VNTR))
  •  Microsatellites (simple repeats; short tandem repeats (STR))

mobile:
mobile elements:
  • DNA transposons
  • retro Elements (Short interspersed elements (SINE); long interspersed elements (LINE); human endogenous retrovirus (HERV))

Lösung ausblenden
TESTE DEIN WISSEN
HERV
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TESTE DEIN WISSEN
Human endogenous retroviruses
  • integrated into human genome over a million years ago
  • infection of germline cells with exogenous retroviruses during evolution at multiple times
  • vertical transfer
  • several HERV groups (50-100)
  • many are still transcribed
  • most are coding deficient -> no protein
Lösung ausblenden
TESTE DEIN WISSEN
Microsatellites 
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TESTE DEIN WISSEN
  • repeats of 1-4bp
  • total size of less than 100bp
  • frequent mononucleic repeat: A,T
  • frequent dinucleic repeat: CA/TG, AC/CT
  • short tandem repeats
  • Predominantly used for paternity testing and forensics
Lösung ausblenden
TESTE DEIN WISSEN
DNA transposons 
Lösung anzeigen
TESTE DEIN WISSEN
  • Inverted terminal repeats due to insertion mechanism
  • one ORF originally for transposase
  • mostly non-coding
  • no active transposons in human genome today
  • different families: MER1 & MER2
Lösung ausblenden
TESTE DEIN WISSEN
Overview mobile DNA elements
Lösung anzeigen
TESTE DEIN WISSEN
Autonomous
  • LINE
  • HERV
  • DNA transposons 

Non-autonomous
  • SINE
  • processed pseudogenes
Lösung ausblenden
TESTE DEIN WISSEN
Minisatellites
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TESTE DEIN WISSEN
Telomere DNA
  • In all telomeres
  • 6bp Unit (human: TTAGGG)
  • Total size 10-15kb
  • Protection against loss of genetic material 
  • Important for genome integrity and stability

Hypervariable families
  • On all chromosomes; often close to telomeres
  • Total size 0,1-20kb
  • Variable number of tandem repeats (VNTR)
  • Hot spots for homologous recombination
  • Combinations of VNTRs and Microsatellites used for genetic fingerprint
Lösung ausblenden
TESTE DEIN WISSEN
Satellite DNA
Lösung anzeigen
TESTE DEIN WISSEN
  • Different families
  • In heterochromatic reagiert surrounding centromere and dispersed throughout the chromosomes
  • Core sequence between 5-171bp

Alpha sattelites
  • 171 bp core seq 
  • Contain binding sites for centromer binding proteins
  • Highly related sequences which are repeated in a specific order
  • This order is again repeated
Lösung ausblenden
TESTE DEIN WISSEN
Heterochromatin
Lösung anzeigen
TESTE DEIN WISSEN
  • Condensed during cell cycle 
  • Mostly repetitive sequences 
  • Transcriptionally inactive
Lösung ausblenden
  • 136144 Karteikarten
  • 2282 Studierende
  • 33 Lernmaterialien
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Beispielhafte Karteikarten für deinen Humangenetik Kurs an der Universität des Saarlandes - von Kommilitonen auf StudySmarter erstellt!

Q:
Euchromatin
A:
  • Condensed during mitosis
  • Genes
  • Transcriptionally active
Q:
Classification of eukaryotic DNA
A:
  • Genes
  • Spacer DNA
  • Repetitive DNA
Q:
Nuclear genome
(size, DNA molecules per cell, associated protein, number of genes, gene density, repetitive DNA, Transcription, introns, portion of coding, recombination, inheritance)
A:
  • Size: 3500 MB
  • DNA molecules per cell: 23 in XX; 24 in XY, all linear
  • Asociated protein: several classes of histone- and non-histone proteins
  • number of genes: about 23000
  • Gene density: 1 in 40kb
  • Repetitive DNA: large portion
  • transcription: predominantly separate transcription of genes
  • introns: present in most genes
  • portion of coding: about 2%
  • recombination: during meiosis at least 1x for each homologous pair
  • Inheritance: Mendelian inheritance for autonomes and X, paternal inheritance of Y
Q:
Mitochondrial genome
(size, DNA molecules per cell, associated proteins, number of genes, gene density, repetitive DNA, transcription, introns, portion of coding, recombination, inheritance)
A:
  • Size: 16.6 MB
  • DNA molecules per cell: one circular DNA molecule
  • associated protein: predominantly free of proteins
  • number of genes: 37
  • Gene density: 1 in 0.45 kb
  • repetitive DNA: Minor Portion 
  • transcription: continuous Transcription of multiple genes
  • introns: none
  • portion of coding: about 93%
  • recombination: none
  • inheritance: maternal inheritance
Q:
Stable and mobile elements
A:
Stable:
Highly repetitive: 
  • satellite DNA

tandem repeats:
  • minisatellites (telomeres; subtelomeres; hypervariable families (VNTR))
  •  Microsatellites (simple repeats; short tandem repeats (STR))

mobile:
mobile elements:
  • DNA transposons
  • retro Elements (Short interspersed elements (SINE); long interspersed elements (LINE); human endogenous retrovirus (HERV))

Mehr Karteikarten anzeigen
Q:
HERV
A:
Human endogenous retroviruses
  • integrated into human genome over a million years ago
  • infection of germline cells with exogenous retroviruses during evolution at multiple times
  • vertical transfer
  • several HERV groups (50-100)
  • many are still transcribed
  • most are coding deficient -> no protein
Q:
Microsatellites 
A:
  • repeats of 1-4bp
  • total size of less than 100bp
  • frequent mononucleic repeat: A,T
  • frequent dinucleic repeat: CA/TG, AC/CT
  • short tandem repeats
  • Predominantly used for paternity testing and forensics
Q:
DNA transposons 
A:
  • Inverted terminal repeats due to insertion mechanism
  • one ORF originally for transposase
  • mostly non-coding
  • no active transposons in human genome today
  • different families: MER1 & MER2
Q:
Overview mobile DNA elements
A:
Autonomous
  • LINE
  • HERV
  • DNA transposons 

Non-autonomous
  • SINE
  • processed pseudogenes
Q:
Minisatellites
A:
Telomere DNA
  • In all telomeres
  • 6bp Unit (human: TTAGGG)
  • Total size 10-15kb
  • Protection against loss of genetic material 
  • Important for genome integrity and stability

Hypervariable families
  • On all chromosomes; often close to telomeres
  • Total size 0,1-20kb
  • Variable number of tandem repeats (VNTR)
  • Hot spots for homologous recombination
  • Combinations of VNTRs and Microsatellites used for genetic fingerprint
Q:
Satellite DNA
A:
  • Different families
  • In heterochromatic reagiert surrounding centromere and dispersed throughout the chromosomes
  • Core sequence between 5-171bp

Alpha sattelites
  • 171 bp core seq 
  • Contain binding sites for centromer binding proteins
  • Highly related sequences which are repeated in a specific order
  • This order is again repeated
Q:
Heterochromatin
A:
  • Condensed during cell cycle 
  • Mostly repetitive sequences 
  • Transcriptionally inactive
Humangenetik

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