人間の染色体3のDNA配列,アノテーション,分析

Donna M Muzny¹, Steven E Scherer, Rajinder Kaul

¹Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

Nature

|April 28, 2006

まとめ

研究者はヒト染色体3を配列化し分析し,そのユニークな構造と低複製率を明らかにした. この研究は,癌に関連した遺伝子と進化史の洞察を提供し,有意な周中心の逆転を含む.

科学分野:

ゲノミクスゲノミクスとは
人間の遺伝学人間の遺伝学
比較ゲノミクスとは

背景:

国際ヒトゲノムシーケンシングコンソーシアム (International Human Genome Sequencing Consortium) は,すべてのヒト染色体の注釈を完了している.
人間の染色体3は,ヒトゲノムの中で最も大きく,最も複雑な染色体の一つです.

研究の目的:

人間の染色体の配列と分析を説明する 3.
ヒトがんに関連する遺伝子クラスターとロキの特徴を特定する.
染色体3の周心逆転の進化史を調査する.

主な方法:

全ゲノムシーケンシングとシーケンスの完成.
チンパンジーと rhesus macaque の配列を用いた比較ゲノム分析.
遺伝子クラスター,セグメンタル複製,脆弱な部位の識別と特徴付け.

主要な成果:

染色体3は,完成したDNA配列の最も長い既知の部分を含む4つのコンティグスで構成されています.
染色体は,ヒトゲノムの中で最も低いセグメンタル複製率を示しています.
FHIT遺伝子とFRA3B脆弱部位を含む,キモカイン受容体遺伝子クラスタとがん関連ロキューを特定しました.
比較ゲノミクスを用いて,大回中心の逆転のブレイクポイントを特徴づけた.

結論:

ヒト染色体3の包括的な配列と分析は,貴重なゲノムリソースを提供します.
染色体3は,がんと免疫機能に関連する重要な遺伝子を宿している.
特定された周囲中心の逆転は,霊長類の進化とゲノム再編成の洞察を提供します.

さらに関連する動画

16:24

Analyzing and Building Nucleic Acid Structures with 3DNA

Published on: April 26, 2013

09:32

Deciphering High-Resolution 3D Chromatin Organization via Capture Hi-C

Published on: October 14, 2022

関連する概念動画

01:17

Karyotyping

Overview

02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

01:17

Karyotyping

Overview

02:31

Synteny and Evolution

John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...

03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...

03:36

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

関連する実験動画