在KMT2C中出现了一种新的11个基对删除,导致Kleefstra综合征2
Whitney Whitford1,2, Juliet Taylor3, Ian Hayes3
1School of Biological Sciences, The University of Auckland, Auckland, New Zealand.
Molecular genetics & genomic medicine
|December 26, 2023
概括
一种新的KMT2C基因删除导致Kleefstra综合征2,这是一个罕见的神经发育障碍. 这一发现扩大了对KMT2C突变及其对染色质修饰的影响的理解.
科学领域:
- 遗传学 遗传学 是一个
- 神经发育障碍 神经发育障碍
- 分子生物学分子生物学
背景情况:
- 氨酸甲基转移酶2C (KMT2C) 基因的发生不足导致克莱夫斯特拉综合征2.
- 这种罕见的自体主导性疾病具有不同的临床特征,如发育迟缓和异形特征.
研究的目的:
- 在患有全球发育迟缓和其他症状的患者中确定Kleefstra综合征2的遗传原因.
- 为了描述KMT2C基因中的新突变.
主要方法:
- 整个外基因组测序在探针和她的兄弟姐妹身上进行.
- 分析发现KMT2C基因中出现了de novo异构缺失.
主要成果:
- 在KMT2C中发现了一种新的11bp删除 (c.1759_1769del),导致了一个移突变 (p.Gln587SerfsTer7).
- 这种突变位于SET域的上游,对蛋白质的酶活性至关重要.
结论:
- 鉴定到的KMT2C突变扩大了克莱夫斯特拉综合征2中已知的遗传改变谱.
- 在SET域上游的突变可能会导致蛋白质的切断,通过基因素甲基化损害染色质的修饰.
更多相关视频
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.6K
00:06In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
13.7K
相关概念视频
01:17Karyotyping
60.9K
Overview
60.9K
02:20Cohesins
4.5K
Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
4.5K
01:31Translation
142.0K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.0K
02:18Alternative RNA Splicing
21.2K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.2K