A complete map of the human ribosomal protein genes: Assignment of 80 genes to the cytogenetic map and implications for human disorders

被引：110

作者：

Uechi, T ^{[1
]}

Tanaka, T ^{[1
]}

Kenmochi, N ^{[1
]}

机构：

[1] Univ Ryukyus, Sch Med, Dept Biochem, Nishihara, Okinawa 9030215, Japan

来源：

GENOMICS | 2001年 / 72卷 / 03期

基金：

日本学术振兴会;

关键词：

D O I：

10.1006/geno.2000.6470

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Mapping of the human ribosomal protein (RP) genes has been completed, and all 80 different genes were placed on a cytogenetic map of the human genome. Because of the existence of processed pseudogenes, the localization of the RP genes was complicated, and five genes had remained to be mapped. Here we developed a novel strategy to identify sequence-tagged sites (STSs) at introns of the RP genes, and we localized RPL14 RPL22, RPL35, RPL36, and RPL39 within the chromosomes by radiation hybrid mapping. Unlike the case of eubacteria or archaebacteria, human RP genes are widely scattered about the genome. Together with the previous results, both sex chromosomes and 20 autosomes tall but chromosomes 7 and 21) were found to carry one or more RP genes. To explore the possible involvement of RP genes in human disorders, all 80 genes were assigned to cytogenetic bands according to a published cytogenetic BAC-STS map of the human genome. We compared the assigned positions with candidate regions for Mendelian disorders and found certain genes that might be involved in particular human disorders, (C) 2001 Academic Press.

引用

页码：223 / 230

页数：8

共 39 条

[21] The Minute genes in Drosophila and their molecular functions [J].

Lambertsson, A .

ADVANCES IN GENETICS, VOL 38, 1998, 38 :69-134

[22] Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family [J].

Legius, E ;

Schollen, E ;

Matthijs, G ;

Fryns, JP .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (01) :32-37

[23] THE RIBOSOMAL L5 PROTEIN IS ASSOCIATED WITH MDM-2 AND MDM-2-P53 COMPLEXES [J].

MARECHAL, V ;

ELENBAAS, B ;

PIETTE, J ;

NICOLAS, JC ;

LEVINE, AJ .

MOLECULAR AND CELLULAR BIOLOGY, 1994, 14 (11) :7414-7420

[24] Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele [J].

McGee, TL ;

Devoto, M ;

Ott, J ;

Berson, EL ;

Dryja, TP .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (05) :1059-1066

[25]

Meyuhas Oded, 1996, V30, P363

[26] NOONAN SYNDROME - AN UPDATE AND REVIEW FOR THE PRIMARY PEDIATRICIAN [J].

NOONAN, JA .

CLINICAL PEDIATRICS, 1994, 33 (09) :548-555

[27] HYPERTELORISM WITH TURNER PHENOTYPE - A NEW SYNDROME WITH ASSOCIATED CONGENITAL HEART DISEASE [J].

NOONAN, JA .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1968, 116 (04) :373-&

[28] THE 3-21 TRANSLOCATION IN MYELODYSPLASIA RESULTS IN A FUSION TRANSCRIPT BETWEEN THE AML1 GENE AND THE GENE FOR EAP, A HIGHLY CONSERVED PROTEIN ASSOCIATED WITH THE EPSTEIN-BARR-VIRUS SMALL RNA EBER-1 [J].

NUCIFORA, G ;

BEGY, CR ;

ERICKSON, P ;

DRABKIN, HA ;

ROWLEY, JD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (16) :7784-7788

[29] AMLI FUSION TRANSCRIPTS IN T(3-21) POSITIVE LEUKEMIA - EVIDENCE OF MOLECULAR HETEROGENEITY AND USAGE OF SPLICING SITES FREQUENTLY INVOLVED IN THE GENERATION OF NORMAL AMLI TRANSCRIPTS [J].

SACCHI, N ;

NISSON, PE ;

WATKINS, PC ;

FAUSTINELLA, F ;

WIJSMAN, J ;

HAGEMEIJER, A .

GENES CHROMOSOMES & CANCER, 1994, 11 (04) :226-236

[30] THE EPSTEIN-BARR-VIRUS (EBV) SMALL RNA EBER1 BINDS AND RELOCALIZES RIBOSOMAL PROTEIN-L22 IN EBV-INFECTED HUMAN B-LYMPHOCYTES [J].

TOCZYSKI, DP ;

MATERA, AG ;

WARD, DC ;

STEITZ, JA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (08) :3463-3467

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