Length variation of CAG repeats in Sry across populations of Mus domesticus
Length variation of CAG repeats in Sry across populations of Mus domesticus
复制标题
不同家鼠种群间 CAG 重复序列的长度变化
DOI：
10.1007/bf00293015
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发表时间：
1995
期刊：
影响因子：
2.5
通讯作者：
P. Tucker
中科院分区：
文献类型：
--
作者：
K. Miller;B. Lundrigan;P. Tucker
Sry是Y染色体（Chr）连锁的性别决定基因座，负责哺乳动物的睾丸决定（Gubbay et al. 1990; Koopman et al. 1990，1991; Sinclair et al. 1990）。该基因被认为含有由长度为79个氨基酸的中心DNA结合基序（HMG盒）和侧翼序列组成的单个外显子。HMG结构域的DNA序列在有袋类和胎盘类哺乳动物物种中是保守的（Foster et al. 1992; Gubbay et al. 1990; Sinclair et al. 1990; Whitfield et al. 1993）。然而，即使在较低的分类学水平上，侧翼区也不保守（Tucker and Lundrigan 1993; Whitfield et al. 1993）。例如，在旧世界小鼠和大鼠（鼠科）中，羧基非盒区包含三核苷酸重复CAG的完美和不完美间隔，长度从非洲大鼠（Hylomyscus alleni）的92个氨基酸到家鼠（Mus musculus）的313个氨基酸不等。即使将小家鼠与它的兄弟物种小家鼠进行比较，长度的显著差异也是显而易见的。后一种物种的羧基非盒区相当短，从153至155个氨基酸（Coward等，1994）。研究小鼠性别决定的实验涉及将小家鼠Y Chr转移到C57 BL/6J的遗传背景上，C57 BL/6J是一种标准近交实验室小鼠品系，由小家鼠和小家鼠的基因组混合物组成; C57 BL/6J的Y Chr来自亚洲小家鼠（Nagamine等人，1992年; Tucker等人，1992年）。将不同的小家鼠Y Chr转移到C57 BL/6J背景上可导致性逆转、睾丸索发育延迟或正常发育（Biddle and Nishioka 1988; Biddle et al. 1991; Eicher et al. 1982; Eicher 1994; Nagamine et al. 1987; Washburn and Eicher 1983，1989; Washburn et al. 1990）。最近的研究表明，小家鼠和家鼠的Sry在三个方面有所不同：（1）有七个单碱基对差异，包括在核苷酸位置9906处的C到T过渡突变（全文中核苷酸位置的数字是指GenBank登录号X67204中Sry的碱基对位置）导致小家鼠中的氨基酸谷氨酰胺被小家鼠中的终止密码子取代;（2）小家鼠有一个额外的CAC重复序列（8808 - 8810）;和（3）在区间8733 - 8765和8811 - 8846中CAG重复的数目存在差异（Coward等，1994）。然而，仅发现区间8811 - 8846中的CAG重复数在小家鼠内变化（Coward等，1994）。这种变异与当小家鼠Sry等位基因置于C57BL/6J遗传背景上时睾丸发育延迟和性逆转的发生相关，即，C57 BL/6J和正常功能的小家鼠等位基因在区间8811 - 8846中具有12个CAG重复，小家鼠变体（AKR/J），当与C57 BL/6J杂交时，
Sry is the Y Chromosome (Chr)-linked, sex-determining locus responsible for testis determination in mammals (Gubbay et al. 1990; Koopman et al. 1990, 1991; Sinclair et al. 1990). The gene is thought to contain a single exon consisting of a central DNAbinding motif (HMG box) 79 amino acids in length, and flanking sequences. The DNA sequence of the HMG domain is conserved across species of marsupial and placental mammals (Foster et al. 1992; Gubbay et al. 1990; Sinclair et al. 1990; Whitfield et al. 1993). However, flanking regions are not conserved even at lower taxonomic levels (Tucker and Lundrigan 1993; Whitfield et al. 1993). In Old World mice and rats (subfamily Murinae), for example, the carboxy non-box region contains both perfect and imperfect intervals of the trinucleotide repeat, CAG, and varies in length from 92 amino acids in the African rat (Hylomyscus alleni) to 313 amino acids in the house mouse (Mus musculus). Significant length variation is evident even when comparing Mus rausculus with its sibling species, Mus domesticus. The carboxy nonbox region in the latter species is considerably shorter, from 153 to 155 amino acids (Coward et al. 1994). Experiments investigating sex determination in mice have involved the transfer of the Mus domesticus Y Chr onto the genetic background of C57BL/6J, a standard inbred laboratory mouse strain consisting of a mixture of the genomes of Mus musculus and Mus domesticus; the Y Chr of C57BL/6J is of Asian Mus musculus origin (Nagamine et al. 1992; Tucker et al. 1992). The transfer of different Mus domesticus Y Chrs onto the C57BL/6J background can result in either sex reversal, delayed development of the testicular cord, or normal development (Biddle and Nishioka 1988; Biddle et al. 1991; Eicher et al. 1982; Eicher 1994; Nagamine et al. 1987; Washburn and Eicher 1983, 1989; Washburn et al. 1990). Recent studies have shown that Sry from Mus musculus and Mus domesticus differs in three respects: (1) there are seven single base pair differences, including a C-to-T transitional mutation at nucleotide position 9906 (numbers for nucleotide positions throughout the paper refer to the base pair positions of Sry in GenBank entry X67204) that results in the replacement of the amino acid glutamine in Mus musculus with a stop codon in Mus domesticus; (2) Mus musculus has one additional CAC repeat (8808-8810); and (3)there are differences in the number of CAG repeats in the intervals 8733-8765 and 8811-8846 (Coward et al. 1994). However, only the number of CAG repeats in the interval 8811-8846 has been found to vary within Mus domesticus (Coward et al. 1994). This variation is correlated with the occurrence of delayed testis development and sex reversal when Mus domesticus Sry alleles are placed on a C57BL/6J genetic background, i.e., C57BL/6J and the normal functioning Mus domesticus alleles have 12 CAG repeats in the interval 8811-8846, a Mus domesticus variant (AKR/J), which when crossed with C57BL/6J results in
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小鼠中 T 相关性逆转的遗传。
DOI：
10.1017/s001667230003528x
发表时间：
1990
期刊：
Genetical research
影响因子：
--
作者：
Washburn,LL;Lee,BK;Eicher,EM
通讯作者：
Eicher,EM
影响因子：
10.7
作者：
B. Lundrigan;P. Tucker
通讯作者：
B. Lundrigan;P. Tucker
小鼠正常睾丸的测定取决于 17 号染色体和 Y 染色体上基因座的遗传相互作用。
影响因子：
3.3
作者：
Washburn,LL;Eicher,EM
通讯作者：
Eicher,EM
影响因子：
56.9
作者：
FU, YH;PIZZUTI, A;CASKEY, CT
通讯作者：
CASKEY, CT