The Human Y Chromosome: The Biological Role of a "Functional Wasteland".
The Human Y Chromosome: The Biological Role of a "Functional Wasteland".
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DOI：
10.1155/s1110724301000080
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发表时间：
2001
影响因子：
--
通讯作者：
Fellous M
中科院分区：
文献类型：
--
作者：
Quintana-Murci L;Fellous M
“功能荒地”、“不可重组沙漠”和“基因贫乏染色体”只是过去十年中对 Y 染色体的不同定义的一些例子。与其他染色体相比，Y 染色体的基因较差，其 50% 以上的序列由重复元素组成。此外，Y基因可能由于该染色体缺乏重组而持续衰退。但与此同时，人类 Y 染色体在人类生物学中发挥着核心作用。该染色体的存在与否决定了性腺的性别。因此，具有 Y 染色体的哺乳动物胚胎发育出睾丸，而没有 Y 染色体的哺乳动物胚胎则发育出卵巢（Polani）。决定男性表型的是睾丸决定SRY基因（Sinclair），它仍然是该染色体最显着的特征。除了SRY之外，还报道了其他具有重要功能的基因的存在，包括与Turner estigmata相关的区域、与性腺母细胞瘤发育相关的基因，以及最重要的与生殖细胞发育和维持相关的基因，以及与男性生育力相关的基因（Lahn和Page）。本文综述了这种奇特染色体的结构和生物学功能。
“Functional wasteland,” “Nonrecombining desert,” and “Gene-poor chromosome” are only some examples of the different definitions given to the Y chromosome in the last decade. In comparison to the other chromosomes, the Y is poor in genes, being more than 50% of its sequence composed of repeated elements. Moreover, the Y genes are in continuous decay probably due to the lack of recombination of this chromosome. But the human Y chromosome, at the same time, plays a central role in human biology. The presence or absence of this chromosome determines gonadal sex. Thus, mammalian embryos with a Y chromosome develop testes, while those without it develop ovaries (Polani). What is responsible for the male phenotype is the testis-determining SRY gene (Sinclair) which remains the most distinguishing characteristic of this chromosome. In addition to SRY, the presence of other genes with important functions has been reported, including a region associated to Turner estigmata, a gene related to the development of gonadoblastoma and, most important, genes related to germ cell development and maintenance and then, related with male fertility (Lahn and Page). This paper reviews the structure and the biological functions of this peculiar chromosome.