41 Kilobases of Analyzed Sequence from the Pseudoautosomal and Sex-Determining Regions of the Short Arm of the Human Y Chromosome

doi:10.1006/geno.1995.1047

Genomics

Volume 27, Issue 2, 20 May 1995, Pages 306-311

https://doi.org/10.1006/geno.1995.1047 Get rights and content

Abstract

Determination of 41.2 kb of Y chromosome genomic sequence has been made from a cosmid that spans the Yp pseudoautosomal boundary and includes 18.5 kb of sequence from the patient-defined sex-determining region of the Y chromosome. An AceDB database of the sequence and the analysis data have been produced as a resource for studies of the evolution and population genetics of the Y chromosome. Comparison of the 18.5 kb from the sex determining region to the sex determining region of mouse does not locate any areas of similarity outside SRY/Sry. Indeed, no coding regions other than those previously reported can be detected anywhere in the 41 kb. The Y-specific and pseudoautosomal portions of this sequence have different repeat sequence and GC contents: this may have relevance both to the events defining the pseudoautosomal boundary and to the course of sequence evolution in the absence of recombination.

References (0)

Cited by (15)

Molecular identification of a new androgenic gland-specific insulin-like gene from the mud crab, Scylla paramamosain
2014, Aquaculture
Citation Excerpt :
A GC box is also found in the 5′ flanking sequence which is deemed a cis-acting transcriptional regulatory element and would play an important role in assembling transcription complexes on promoters to enhance gene's expression (Klug et al., 2009). SRY (sex-determining region Y) is a sex-determining gene on the Y chromosome, since its discovery, the importance of the SRY gene in sex determination has been extensively documented (Wallis et al., 2008; Whitfield et al., 1995). The existence of putative SRY transcription factors indicated that Sp-IAG was indeed relevant to male sexual development.
It is well known that the androgenic gland is a specific endocrine organ of the male crustacean, controlling its primary and secondary sexual characteristics. The androgenic gland hormone is a key peptide hormone involved in sexual differentiation in crustaceans. In this study, a full length cDNA encoding insulin-like gland hormone from Scylla paramamosain, named Sp-IAG, was identified. The predicted protein had similar molecular organization to other insulin-like androgenic gland factors reported in the Decapoda, encoding a signal peptide, B chain, C peptide and A chain. There were two disulfide bridges between the B chain and A chain, and one disulfide in the B chain. In particular, a full genomic DNA sequence of Sp-IAG with a 5′ flanking region of 2988 bp was revealed from which many potential regulatory binding sites were first identified in S. paramamosain. The Sp-IAG gene was highly expressed in the androgenic gland and also lowly expressed in the seminal vesicle and ejaculatory duct, which was not reported in previous studies. It is noteworthy that Sp-IAG was highly expressed both in the androgenic gland and in the seminal vesicle using western blot analysis, suggesting that Sp-IAG might play a major role in these two organs. In addition, it was quantitatively detected that Sp-IAG mRNA expression was up-regulated after mating, which suggested that this protein might have an activity related to mating behavior. Eyestalk ablation can induce a high level of Sp-IAG expression, demonstrating that the Sp-IAG of S. paramamosain was negatively controlled by the X-organ–sinus gland in the eyestalk. These findings provided the basis for elucidating the mechanism of sex differentiation in crustaceans.
Human genetic affinities for Y-chromosome p49a, f/TaqI haplotypes show strong correspondence with linguistics
1997, American Journal of Human Genetics
Numerous population samples from around the world have been tested for Y chromosome–specific p49a,f/TaqI restriction polymorphisms. Here we review the literature as well as unpublished data on Y-chromosome p49a,f/TaqI haplotypes and provide a new nomenclature unifying the notations used by different laboratories. We use this large data set to study worldwide genetic variability of human populations for this paternally transmitted chromosome segment. We observe, for the Y chromosome, an important level of population genetic structure among human populations (F_ST=.230, P<.001), mainly due to genetic differences among distinct linguistic groups of populations (F_CT=.246, P<.001). A multivariate analysis based on genetic distances between populations shows that human population structure inferred from the Y chromosome corresponds broadly to language families (r=.567, P<.001), in agreement with autosomal and mitochondrial data. Times of divergence of linguistic families, estimated from their internal level of genetic differentiation, are fairly concordant with current archaeological and linguistic hypotheses. Variability of the p49a,f/TaqI polymorphic marker is also significantly correlated with the geographic location of the populations (r=.613, P<.001), reflecting the fact that distinct linguistic groups generally also occupy distinct geographic areas. Comparison of Y-chromosome and mtDNA RFLPs in a restricted set of populations shows a globally high level of congruence, but it also allows identification of unequal maternal and paternal contributions to the gene pool of several populations.
Sequence of the human immunoglobulin diversity (D) segment locus: A systematic analysis provides no evidence for the use of DIR segments, inverted D segments, 'Minor' D segments or D-D recombination
1997, Journal of Molecular Biology
We have determined the complete nucleotide sequence of the human immunoglobulin D segment locus on chromosome 14q32.3 and identified a total of 27 D segments, of which nine are new. Comparison with a datbase of rearranged heavy chain sequences indicates that the human antibody repertoire is created by VDJ recombination involving 25 of these 27 D segments, extensive processing at the V-D and D-J junctions and use of multiple reading frames. We could find no evidence for the proposed use of DIR segments, inverted D segments, “minor” D segments or D-D recombination. Conventional VDJ recombination, which obeys the 12/23 rule, is therefore sufficient to explain the wealth of lengths and sequences for the third hypervariable loop of human heavy chains.
Human Y-chromosome variation in the genome-sequencing era
2017, Nature Reviews Genetics
A pseudoautosomal boundary-like element adjacent to the SSAVI locus at 18q21
1999, Mitochondrial DNA
Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome
1999, Journal of Medical Genetics

View all citing articles on Scopus

View full text

Regular Article41 Kilobases of Analyzed Sequence from the Pseudoautosomal and Sex-Determining Regions of the Short Arm of the Human Y Chromosome

Abstract

Regular Article
41 Kilobases of Analyzed Sequence from the Pseudoautosomal and Sex-Determining Regions of the Short Arm of the Human Y Chromosome