Report of the Fourth International Workshop on Human Chromosome 4 Mapping 1996

Rieß, Olaf; Ommen, Gert-Jan van

doi:10.1159/000134384

Cited by 7 publications

(5 citation statements)

References 13 publications

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“…A list of disease-associated loci on autosomes 1, 2, 4 and 11 was compiled from international workshops on these chromosomes (Weith et al 1996;Spur et al 1996;Riess et al 1996;Shows et al 1996). A similar list was compiled for chromosomes 1, 3 and X using information in the genmap ¢le.…”

Section: (B) Disease-associated Loci (Omim)mentioning

confidence: 99%

An apparent excess of sex– and reproduction–related genes on the human X chromosome

Saifi

Chandra

1999

Proc. R. Soc. Lond. B

141

109

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We describe here the results of a search of Mendelian inheritance in man, GENDIAG and other sources which suggest that, in comparison with autosomes 1, 2, 3, 4 and 11, the X chromosome may contain a significantly higher number of sex- and reproduction-related (SRR) genes. A similar comparison between X-linked entries and a subset of randomly chosen entries from the remaining autosomes also indicates an excess of genes on the X chromosome with one or more mutations affecting sex determination (e.g. DAX1), sexual differentiation (e.g. androgen receptor) or reproduction (e.g. POF1). A possible reason for disproportionate occurrence of such genes on the X chromosome could be that, during evolution, the 'choice' of a particular pair of homomorphic chromosomes for specialization as sex chromosomes may be related to the number of such genes initially present in it or, since sex determination and sexual dimorphism are often gene dose-dependent processes, the number of such genes necessary to be regulated in a dose-dependent manner. Further analysis of these data shows that XAR, the region which has been added on to the short arm of the X chromosome subsequent to eutherian-marsupial divergence, has nearly as high a proportion of SRR genes as XCR, the conserved region of the X chromosome. These observations are consistent with current hypotheses on the evolution of sexually antagonistic traits on sex chromosomes and suggest that both XCR and XAR may have accumulated SRR traits relatively rapidly because of X linkage.

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Section: (B) Disease-associated Loci (Omim)mentioning

confidence: 99%

An apparent excess of sex– and reproduction–related genes on the human X chromosome

Saifi

Chandra

1999

Proc. R. Soc. Lond. B

141

109

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“…6,7 It is located on the short (p) arm of chromosome 4 at position 16.3 (4p16.3), more precisely, from base pair 587,324 to 670,891 on chromosome 4. 8 The gene exhibits an alternative in-frame splice site at its 3′ end. The alternative splice variant, PDE6B-2, encodes an 853 amino acids protein with 1 missing amino acid near the C-terminus (PDE6β-2; 98,237 Da) compared with the canonical sequence.…”

Section: Genementioning

confidence: 99%

“…In 1993, the human PDE6B gene was isolated and sequenced, contains 22 exons and encodes the canonical PDE6ß polypeptide isoform 1 of 854 amino acid residues for a calculated molecular weight of 98,336 Da 6,7. It is located on the short (p) arm of chromosome 4 at position 16.3 (4p16.3), more precisely, from base pair 587,324 to 670,891 on chromosome 4 8…”

Section: Genementioning

confidence: 99%

PDE6B Mutation-associated Inherited Retinal Disease

Marconi¹,

Stout²

2021

International Ophthalmology Clinics

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“…D4S1601 maps 84.57cR from the top of chromosome 4 linkage group. Loci D4S1601 and D4S934 have been approximately mapped to the 4p15.3 region (Riess et al 1996).…”

Section: Mapping Of Human Clim1 and Clim2 Genesmentioning

confidence: 99%