Mapping of the human ribosomal protein genes

人类核糖体蛋白基因图谱

• 批准号: 08044308
• 负责人: KENMOCHI Naoya
• 金额: $ 2.37万
• 依托单位: University of the Ryukyus
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for international Scientific Research
• 财政年份: 1996
• 资助国家: 日本
• 起止时间: 1996 至 1997
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08044308/
• 关键词: ribosomal proteins; gene mapping; human chromosomes; chromosomal disorders; genome; DNA; STS; ヒト染色体地図

We are intrigued by the possibility that deficiencies of ribosomal protein (rp) genes might cause certain chromosomal disorders in humans. To explore this possibility, we have been systematically mapping the estimated 80 human rp genes. Since localization of rp genes is complicated by the existence of processed pseudogenes, "intron trapping" was devised to identify PCR-detectable sequence-tagged sites (STSs) at introns.We generated 75 STSs specific to intron containing rp genes and then assigned them to individual human chromosomes by typing human-rodent hybrid cell lines. The gene were placed more precisely on the physical map of the human genome by typing radiation hybrids or screening YAC libraries. Fifty-one previously unmapped rp genes were localized, and 24 previously reported rp gene localizations were confirmed, refined or corrected. Though functionally related and coordinately expressed, the 75 mapped genes are widely dispersed : both sex chromosomes and at least 20 of the 22 autosomes carry one or more rp genes. Chromosome 19, known to have a high gene density, contains an unusually large number of rp genes (12). This map provides a foundation for studying the possible roles of ribosomal protein deficiencies in chromosomal and Mendelian disorders.

我们对核糖体蛋白（RP）基因缺乏可能导致人类某些染色体疾病的可能性感到很感兴趣。为了探索这种可能性，我们一直在系统地绘制估计的80个人RP基因。由于存在加工伪基的存在使RP基因的定位变得复杂，因此，设计了“内含子捕获”，以识别内含子的PCR可检测序列标记的位点（STS）。我们针对内含子的75个stss含有RP基因，然后通过与单个人体染色体分配给它们的人体染色体。通过键入辐射杂种或筛选YAC文库，将基因更精确地放在人类基因组的物理图上。局部化了51个先前未映射的RP基因，并证实，精制或校正了24个先前报道的RP基因。尽管有功能相关并协调表达，但75个映射的基因被广泛分散：性别染色体和22个常染色体中的至少20个带有一个或多个RP基因。染色体19（已知具有高基因密度）包含异常数量的RP基因（12）。该地图为研究核糖体蛋白缺陷在染色体和孟德尔疾病中的可能作用提供了基础。

项目成果

Nanda,I.: "The intron-containing ribosomal protein-encoding genes L5,L7a and L37a are unlinked in chicken." Gene. 170. 159-164 (1996)

Nanda,I.：“含有内含子的核糖体蛋白编码基因 L5、L7a 和 L37a 在鸡中是不连锁的。”

Kenmochi, N.: "A Map of 75 Human Ribosomal Protein Genes" Gemome Research. (in press).

Kenmochi, N.：“75 个人类核糖体蛋白基因图谱”Gemome Research。

Kenmochi,N.: "U14 snoRNAs are encoded in introns of human ribosomal protein S13 gene." Biochem.Biophys.Res.Commun.228. 371-374 (1996)

Kenmochi,N.：“U14 snoRNA 是在人核糖体蛋白 S13 基因的内含子中编码的。”

Quay, I.K.E., Toku, S., Tanaka, T.: "Sequence requirement for nucleolar localization of rat ribosomal protein L31." Eur.J.Cell Biol.69. 151-155 (1996)

Quay, I.K.E.、Toku, S.、Tanaka, T.：“大鼠核糖体蛋白 L31 核仁定位的序列要求。”