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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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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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Genomic Imprinting and Inheritance02:30

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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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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Experiment Video

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Human GRIN2B variants in neurodevelopmental disorders.

Chun Hu1, Wenjuan Chen1, Scott J Myers2

  • 1Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, 1510 Clifton Road, Atlanta, GA 30322, USA.

Journal of Pharmacological Sciences
|November 8, 2016
PubMed
Summary

Genetic variants in the GRIN2B gene are linked to neurodevelopmental disorders. Understanding these N-methyl-D-aspartate receptor (NMDAR) gene mutations is key for developing precision medicine therapies.

Keywords:
Developmental delayGluN2B/NR2BIntellectual disabilityNMDA receptorNeuropsychiatric disorders

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Whole exome/genome sequencing generates vast data linking genomic variability to brain disorders.
  • The N-methyl-D-aspartate receptor (NMDAR) gene family, particularly GRIN2B, is frequently implicated in neurodevelopmental disorders.
  • GRIN2B mutations are found across the gene in patients with various neuropsychiatric and developmental conditions.

Purpose of the Study:

  • To summarize disease-associated GRIN2B variants in neurodevelopmental disorders.
  • To discuss the implications of these variants.
  • To highlight the importance of functional analysis and precision medicine.

Main Methods:

  • Review of current reports on disease-associated GRIN2B variants.
  • Analysis of de novo variants segregating with neurodevelopmental disorders.
  • Discussion of functional implications and therapeutic strategies.

Main Results:

  • Numerous GRIN2B variants are associated with neurodevelopmental disorders like ASD, ADHD, epilepsy, and schizophrenia.
  • De novo GRIN2B variants often lead to altered NMDAR function.
  • Mutations are distributed throughout the GRIN2B gene.

Conclusions:

  • GRIN2B variants play a significant role in neurodevelopmental disorders.
  • Functional analysis of GRIN2B variants is crucial for understanding disease mechanisms.
  • Precision medicine approaches targeting NMDAR function hold therapeutic potential.