Report of the Third International Workshop on Human Y Chromosome Mapping 1997

Vogt, Peter H.; Affara, Nabeel A.; Davey, Phillip M.; Hammer, Michael F.; Jobling, Mark A.; Lau, Yun‐Fai Chris; Mitchell, Michael J.; Schempp, Werner; Tyler‐Smith, Chris; Williams, G.; Yen, Pauline H.; Rappold, Gudrun

doi:10.1159/000134680

Cited by 122 publications

(90 citation statements)

References 11 publications

(11 reference statements)

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“…Until now, the GBY locus has been mapped to the small pericentric region (1-2 Mb of DNA). Five genes (amelogenin Y, RNA-binding Y, protein kinase Y, protein tyrosine phosphatase-related Y, and testisspecific protein Y-encoded) residing on that small region are candidates for GBY (Vogt et al 1997;Lahn and Page 1997;Lau and Zhang 2000). A patient with an idic(Y)(q11.23) karyotype that preserved the critical region of GBY showed gonadoblastoma formation (Giltay et al 2001), supporting the interpretation of GBY as an oncogene that affects gonadal tumor formation.…”

Section: Discussionmentioning

confidence: 77%

Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation

et al. 2002

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Section: Discussionmentioning

confidence: 77%

Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation

et al. 2002

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“…They do not pair at male meiosis except within small, homologous, "pseudoautosomal" regions (PARs) (Vogt et al 1997). PARs lie at either extremity of the human sex chromosomes (Cooke et al 1985).…”

mentioning

confidence: 99%

Complex Events in the Evolution of the Human Pseudoautosomal Region 2 (PAR2)

Charchar¹,

Svartman²,

El‐Mogharbel³

et al. 2003

Genome Res.

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The 320-kb human pseudoautosomal region 2 (PAR2) at the tips of the long arms of the X and Y chromosomes is thought to have been duplicated onto the Y chromosome recently in primate evolution. The four genes within PAR2 have been proposed to constitute two zones with different base ratios and transcription, one of which was added recently to the X chromosome. To test this hypothesis, we cloned and mapped PAR2 genes in other species, the lemur, the cat, and a marsupial, the tammar wallaby. None of the human PAR2 genes colocalized with human PAR1 genes in the marsupial genome, confirming that the human PAR1 and PAR2 evolved independently. Of the four PAR2 genes, only SYBL1 was located on the X chromosome in all species, including marsupials, so it was part of the ancient X. HSPRY3 localized to the X in all the eutherians, but not marsupial, so it must have been added to the X 80-130 million years ago. CXYorf1 was present on the X in primates and also in mouse, but autosomal in wallaby, suggesting a later addition 70-130 million years ago, and IL9R was on the X only in primate, suggesting addition 60-70 million years ago. The results therefore demonstrate that at least two independent additions were necessary for PAR2 evolution. The present gene order on the human X also requires two inversions. The complicated evolutionary pathway supports the hypothesis that terminal interchromosomal rearrangements are common in regions unpaired at meiosis.

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“…Among the genes located on this critical region for GBY, the Y-specific repeated gene, the testis-specific protein Y-encoded (TSPY) (Zhang et al, 1992;Schnieders et al, 1996) is one of the most significant candidates for this oncogenic or tumor-promoting locus. First, most of the functional copies of the TSPY gene are located in the GBY critical region (Salo et al, 1995;Tsuchiya et al, 1995;Vogt et al, 1997;Stuppia et al, 2000;Rottger et al, 2002;Skaletsky et al, 2003). Second, expression analyses clearly demonstrated high levels of TSPY expression in gonadoblastoma tissues (Hindenbrand et al, 1999;.…”

confidence: 99%

The Role of the Y-Located TSPY Gene in Prostatic Oncogenesis

Lau¹

2005

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Report of the Third International Workshop on Human Y Chromosome Mapping 1997

Cited by 122 publications

References 11 publications

Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation

Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation

Complex Events in the Evolution of the Human Pseudoautosomal Region 2 (PAR2)

The Role of the Y-Located TSPY Gene in Prostatic Oncogenesis

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