Functional analyses of mouse sex chromosome palindromes

小鼠性染色体回文的功能分析

• 批准号: 7156544
• 负责人: Jacob L Mueller
• 金额: $ 4.4万
• 依托单位: WHITEHEAD INSTITUTE FOR BIOMEDICAL RES
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-07-01 至 2009-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7156544
• 关键词: animal tissue; disease /disorder model; fertility; gene conversion; gene deletion mutation; gene duplication; gene expression; gene frequency; genetic library; laboratory mouse; male; meiosis; polymerase chain reaction; postdoctoral investigator; sex chromosomes; spermatogenesis; testis

DESCRIPTION (provided by applicant): The human sex chromosomes have evolved a complex genomic architecture consisting of a plethora of highly homogenous palindromic sequences harboring testis expressed genes. The high level of nucleotide sequence identity between palindrome arms is believed to be the result of palindrome arm-to-arm recombination. Recombination between Y-specific palindrome arms can cause large deletions of critical testis genes resulting in male infertility. The recent mouse sex chromosome sequences reveal that they also contain large palindromes, thus, providing an excellent model system to study sex chromosome palindromes. Aims 1+2 investigates whether arm-to-arm recombination, also known as gene conversion, is acting on the mouse Y-specific palindromes. Detection of gene conversion within the mouse Y-palindromes would explain the high levels of nucleotide sequence identity between palindrome arms. Aim 3 examines the expression patterns of mouse sex chromosome palindrome associated genes to elucidate palindromes functions during spermatogenesis. Characterization of sex-chromosome palindromes and their associated genes will be of relevance to understanding the mechanisms of gene conversion and male fertility.

描述（由申请人提供）：人类性染色体已经进化出一种复杂的基因组结构，由大量高度同源的回文序列组成，其中含有睾丸表达的基因。回文臂之间的高水平核苷酸序列同一性被认为是回文臂对臂重组的结果。Y染色体特异回文臂间的缺失可导致睾丸关键基因的大量缺失，从而导致男性不育。最近的小鼠性染色体序列显示，它们也含有大的回文，从而为研究性染色体回文提供了一个很好的模型系统。目的1+2研究臂对臂重组（也称为基因转换）是否作用于小鼠Y特异性回文突变。在小鼠Y-回文臂内检测到基因转换将解释回文臂之间的高水平核苷酸序列同一性。目的3研究小鼠性染色体回文相关基因的表达模式，探讨回文在精子发生中的作用。性染色体回文序列及其相关基因的研究将有助于理解基因转换和雄性育性的机制。