Genomic structure and transcript variants of the bovine DAZL gene
Genomic structure and transcript variants of the bovine DAZL gene
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DOI：
10.1159/000097419
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发表时间：
2007-01-01
影响因子：
1.7
通讯作者：
de Leon, F. A. Ponce
中科院分区：
文献类型：
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作者：
Liu, W. -S.;Wang, A.;de Leon, F. A. Ponce
无精子症样缺失（DAZL）基因是DAZ家族的成员，编码一种rna结合蛋白，在男性和女性的产前和产后生殖细胞中表达。在人类中，DAZ家族有5个高度相关的成员，4个（DAZ1-4）在Y染色体上，1个（DAZL）在常染色体（HSA3）上。这些基因的突变与男性严重的生精失败和不育有关。在本研究中，我们克隆并鉴定了牛DAZL （bDAZL）基因。预计全长bDAZL cDNA编码295个氨基酸的蛋白，具有RNA识别基序。推导出的bDAZL蛋白序列与人和小鼠的相似度分别为96%和97%。荧光原位杂交（FISH）将bDAZL定位到BTA1q的远端区域。bDAZL基因由11个外显子和10个内含子组成。在BTA16上鉴定出一个bDAZL假基因。RT-PCR分析bDAZL基因在13种不同组织中的表达结果显示，bDAZL基因的变体1 （2,996 bp）和变体2 （1,373 bp）仅在睾丸mRNA中检测到。这些变异可能是由于另一种RNA剪接造成的，因为变异1在3' UTR中包含一个额外的1,623 bp插入。我们的结果为牛DAZL基因可能的单核苷酸多态性（SNP）和功能研究奠定了基础。版权所有(c) 2007 S. Karger AG，巴塞尔
The Deleted in AZoospermia Like (DAZL) gene is a member of the DAZ family and encodes an RNA-binding protein that is expressed in prenatal and postnatal germ cells of males and females. In the human, there are five highly-related members in the DAZ family, four (DAZ1-4) on the Y chromosome and one (DAZL) on an autosome (HSA3). Mutations in these genes have been linked to severe spermatogenic failure and infertility in men. In the present study, we have cloned and characterized the bovine DAZL (bDAZL) gene. The full-length bDAZL cDNA is predicted to encode a protein of 295 amino acids with an RNA recognition motif. The deduced protein sequence of bDAZL is 96 and 97% similar to human and mouse DAZL, respectively. Fluorescence in situ hybridization (FISH) maps bDAZL to the distal region on BTA1q. The bDAZL gene consists of 11 exons and 10 introns. A bDAZL pseudogene was identified on BTA16. Expression analysis of bDAZL in 13 different tissues by RT-PCR shows that two transcripts, variant 1 (2,996 bp) and variant 2 (1,373 bp), of the bDAZL gene are detected only in testis mRNA. The variants probably result from alternative RNA splicing as variant 1 contains an additional 1,623-bp insertion in the 3' UTR. Our results lay the groundwork for possible single nucleotide polymorphism (SNP) and functional studies of the DAZL gene in cattle. Copyright (c) 2007 S. Karger AG, Basel