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相关概念视频

Genetic Lingo01:11

Genetic Lingo

Overview
Pleiotropy01:33

Pleiotropy

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,...
The Central Dogma01:25

The Central Dogma

Overview
From DNA to Protein03:06

From DNA to Protein

The flow of genetic information in cells from DNA to mRNA to protein is described by the central dogma, which states that genes specify the sequence of mRNAs, which in turn specify the sequence of amino acids making up all proteins. The decoding of one molecule to another is performed by specific proteins and RNAs. Because the information stored in DNA is so central to cellular function, it makes intuitive sense that the cell would make mRNA copies of this information for protein synthesis...
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
The Central Dogma01:20

The Central Dogma

The central dogma explains the flow of genetic information from DNA nucleotides to the amino acid sequence of proteins.
RNA is the Missing Link Between DNA and Proteins
In the early 1900s, scientists discovered that DNA stores all the information needed for cellular functions and that proteins perform most of these functions. However, the mechanisms of converting genetic information into functional proteins remained unknown for many years. Initially, it was believed that a single gene is...

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相关实验视频

Updated: Jul 5, 2026

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
11:20

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism

Published on: December 11, 2009

洛威眼脑脑神经综合征基因编码了一种与伊诺西多-5-酸酶高度同源的蛋白质.

O Attree1, I M Olivos, I Okabe

  • 1Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104-6145.

Nature
|July 16, 1992
PubMed
概括
此摘要是机器生成的。

洛伊·洛威 (Lowwe Lowe) 是一个美国人.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers
10:41

Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers

Published on: June 24, 2019

相关实验视频

Last Updated: Jul 5, 2026

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
11:20

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism

Published on: December 11, 2009

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers
10:41

Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers

Published on: June 24, 2019

科学领域:

  • 遗传学 是一个遗传学.
  • 分子生物学分子生物学
  • 生物化学 生物化学

背景情况:

  • 洛伊眼脑脑神经综合征 (OCRL) 是一种罕见的X相关疾病.
  • 它会影响眼睛,大脑和脏,原因不明.
  • 该OCRL基因位点被映射到Xq25-q26.

研究的目的:

  • 为了确定负责洛伊眼脑脑神经综合征的基因.
  • 为了研究OCRL病变的遗传基础.
  • 了解OCRL背后的分子机制.

主要方法:

  • 利用酵母人造染色体 (YACs) 来分离跨越OCRL患者X染色体断点的DNA.
  • 在转位和基因组重组的患者中选基因转录.
  • 分析了蛋白质与已知的酶的相似性.

主要成果:

  • 在X;自体转位的女性OCRL患者中鉴定出缺少的基因转录.
  • 在大多数男性OCRL患者中发现转录不存在或尺寸异常.
  • 发现了一种与伊诺西多-5-酸酶有显著相似性的新型蛋白质.

结论:

  • 鉴定出来的基因很可能是导致Lowe眼脑脑神经综合征的原因.
  • OCRL可能是内醇酸盐代谢的先天性错误.
  • 对于OCRL治疗,需要对伊诺西酸盐通路进行进一步的研究.