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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Nondisjunction01:21

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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.

Yuqi Qiu1, Thomas Arbogast2, Sandra Martin Lorenzo3

  • 1Division of Biostatistics and Bioinformatics, Department of Family Medicine and Public Health, University of California, San Diego, La Jolla, CA 92093, USA.

Cell Reports
|September 26, 2019
PubMed
Summary
This summary is machine-generated.

Copy-number variants (CNVs) at 16p11.2 impact development and psychiatric conditions. This study reveals conserved craniofacial changes in humans and models, implicating multiple genes in these developmental effects.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Anthropology

Background:

  • A 16p11.2 copy-number variant (CNV) is linked to developmental and psychiatric disorders, affecting head size and body mass.
  • The specific genetic mechanisms driving these associations remain unclear.
  • Investigating craniofacial structure provides a window into the developmental impact of 16p11.2 CNVs.

Purpose of the Study:

  • To elucidate the influence of 16p11.2 genes on craniofacial development.
  • To determine if CNV effects on craniofacial structure are conserved across species.
  • To identify specific genes within the 16p11.2 region that contribute to craniofacial phenotypes.

Main Methods:

  • Comparative analysis of craniofacial features in human and rodent models with 16p11.2 deletion and duplication.
  • Zebrafish model to test the dosage-dependent effects of individual 16p11.2 genes on mandibular shape.
  • Genetic screening of individual and combined gene effects within the 16p11.2 locus.

Main Results:

  • Deletion and duplication of 16p11.2 exhibit reciprocal ('mirror') effects on specific craniofacial features.
  • These craniofacial alterations are conserved between human and rodent models.
  • Seven individual genes within 16p11.2 showed significant effects on zebrafish mandible shape, with additional genes showing effects in combination.

Conclusions:

  • Craniofacial phenotypes associated with 16p11.2 CNVs serve as a valuable model for studying gene effects on development.
  • The observed facial features are likely the result of the cumulative impact of multiple genes within the 16p11.2 region.
  • This research provides insights into the genetic architecture underlying developmental disorders associated with 16p11.2 CNVs.