A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

Well, Dominique; Portnoı̈, Marie-France; Levilliers, Jacquellne; Wang, Irène; Mathieu, M; Talliemite, Jean-Louis; Meler, Murielle; Boudailliez, B; Petit, Christine

doi:10.1093/hmg/2.11.1853

Cited by 39 publications

(28 citation statements)

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“…Analogous to what is seen with Drosophila RPS2, RPS6, RPL19, and RPS21 mutants, the clinical features of DBA could suggest extraribosomal and tissue-specific functions for RPS19. In humans, the RPS4X and RPS4Y genes encoding the RPS4 isoforms S4X and S4Y were considered to be candidate genes for the extragonadal phenotypes in Turner syndrome (6), but this hypothesis has been rejected in more recent studies (8,20). Interestingly, the existence of two different isoforms of S4 led to the formation of "male" and "female" ribosomes, with RPS4X being 10 to 15% as abundant as RPS4Y in male ribosomes (25).…”

Section: Discussionmentioning

confidence: 99%

Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

Matsson

Davey²,

Draptchinskaia³

et al. 2004

Molecular and Cellular Biology

142

116

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The ribosomal protein S19 (RPS19) is located in the small (40S) subunit and is one of 79 ribosomal proteins. The gene encoding RPS19 is mutated in approximately 25% of patients with Diamond-Blackfan anemia, which is a rare congenital erythroblastopenia. Affected individuals present with decreased numbers or the absence of erythroid precursors in the bone marrow, and associated malformations of various organs are common. We produced C57BL/6J mice with a targeted disruption of murine Rps19 to study its role in erythropoiesis and development. Mice homozygous for the disrupted Rps19 were not identified as early as the blastocyst stage, indicating a lethal effect. In contrast, mice heterozygous for the disrupted Rps19 allele have normal growth and organ development, including that of the hematopoietic system. Our findings indicate that zygotes which are Rps19 ؊/؊ do not form blastocysts, whereas one normal Rps19 allele in C57BL/6J mice is sufficient to maintain normal ribosomal and possibly extraribosomal functions.The ribosomal proteins constitute a major component of cellular proteins and are known to be mandatory for cellular growth. A reduced level of one ribosomal protein is rate limiting for the assembly of ribosomes and may constitute a bottleneck for protein synthesis in tissues with a high proliferative activity. Recently, Draptchinskaia et al. found that the gene encoding ribosomal protein S19 (RPS19) was mutated in 25% of patients with Diamond-Blackfan anemia (DBA) (5). DBA is a rare, congenital, and chronic anemia that is characterized by the absence or decreased numbers of erythroid precursors in the bone marrow but an otherwise normal cellularity (1, 4). Approximately 30% of affected patients with DBA show one or several dysmorphic features including growth retardation, hand and/or limb malformations, urogenital anomalies, and congenital heart defects (1, 2, 10). Clinical expression in DBA is highly variable (14,21), and the role of RPS19 in the pathogenesis of the disease is presently unknown.RPS19 is part of the 40S ribosomal unit and shows a high degree of sequence conservation across mammalian species at the protein level (5). In addition to its implication in erythropoiesis, there are indications that RPS19 has extraribosomal functions.A previous study has shown that a dimer of RPS19 may mediate chemotaxis (13). Free RPS19 has also been shown to interact with fibroblast growth factor 2 (FGF-2), and a possible role for RPS19 in embryonic development has been suggested (17). We hypothesized that an Rps19 null mutant would be deleterious for development and that mice heterozygous for Rps19 may present with hematological abnormalities. To clarify the role of RPS19 in erythropoiesis, we created a null mutation for murine Rps19 by homologous recombination in embryonic stem (ES) cells. The targeted Rps19 was introduced on a C57BL/6J background. We present here the results from our studies of this mouse model. MATERIALS AND METHODSConstruction of the Rps19 targeting vector. An Rps19 intron probe was used t...

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Section: Discussionmentioning

confidence: 99%

Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

Matsson

Davey²,

Draptchinskaia³

et al. 2004

Molecular and Cellular Biology

142

116

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show abstract

“…To our knowledge, this is the third case with this condition. Consistent with such rarity, the frequency of 45,X-TDSD with Xp;Yp translocation has been estimated as ~1 of 6×10 7 livebirths, on the basis of the prevalence of loss of maternally derived X chromosome and that of aberrant Xp;Yp translocation during paternal meiosis [1].…”

Section: Discussionmentioning

confidence: 97%

Critical role of Yp inversion in <i>PRKX/PRKY</i>-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development

et al. 2013

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“…The localization of genes on Yp that suppress some of the features of Turner's syndrome continues to bemuse hapless human geneticists all over as some recent reports have placed such a gene(s) near the centromere (Calzolari et al, 1993;Weil et al, 1993) whereas most earlier work restricts it (them) to the distal Yp region (Ogata et al, 1993). Perhaps the postulated inversion polymorphism of Yp would explain one gene being two places at once; alternatively, there are several genes contributing to the phenotype, and they can be localized in two different places.…”

Section: Genes On Ypmentioning

confidence: 99%

Report of the Second International Workshop on Human Y Chromosome Mapping 1995

Affara

Bishop

Brown

et al. 1996

Cytogenet Genome Res

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A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

Cited by 39 publications

References 0 publications

Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation

Critical role of Yp inversion in <i>PRKX/PRKY</i>-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development

Report of the Second International Workshop on Human Y Chromosome Mapping 1995

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