Regional assignments of three polymorphic DNA segments on human chromosome 15

Brissenden, Jane E.; Page, D C; Martinville, B de; Trowsdale, John; Botstein, David; Francke, Uta; Lalouel, Jean-Marc

doi:10.1002/gepi.1370030404

Cited by 16 publications

(8 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our results are in agreement with a recent report (4) in which the authors, have exploited the interspecies sequence homology found in members of the AcChR gene family, to map CHRNA3 to human chromosome 15 and the mouse chromosome 9 employing rat cDNA probes.…”

Section: Mapping Of Human Gene Encoding the Alpha-3 Neuronal Acetylchsupporting

confidence: 83%

“…Such normal variants have been reported for 9p, 9q and 16p arms (3,4). Recognition of such normal euchromatic variants is highly significant in clinical practice and may have potential value in the mapping of genes localized to the region.…”

Section: Mapping Of Human Gene Encoding the Alpha-3 Neuronal Acetylchmentioning

confidence: 99%

“…However, taken together, the results of several laboratories (2,(4)(5)(6)(7) indicate that this gene -in association with genes encoding for the alpha-5 and the beta-4 subunits of the AcChR familymap at or close to human 15q22. This tentative regional assignement is supported by the following observations: 1) In the two species so far investigated (rat and chicken) the alpha-3 gene is located adjacent to the beta-4 and the alpha-5 genes forming a gene cluster (2^).…”

Section: Mapping Of Human Gene Encoding the Alpha-3 Neuronal Acetylchmentioning

confidence: 99%

See 2 more Smart Citations

Abstracts for the committee on the genetic constitution of chromosome 15

1991

Cytogenet Genome Res

View full text Add to dashboard Cite

Section: Mapping Of Human Gene Encoding the Alpha-3 Neuronal Acetylchsupporting

confidence: 83%

Section: Mapping Of Human Gene Encoding the Alpha-3 Neuronal Acetylchmentioning

confidence: 99%

Section: Mapping Of Human Gene Encoding the Alpha-3 Neuronal Acetylchmentioning

confidence: 99%

See 1 more Smart Citation

Abstracts for the committee on the genetic constitution of chromosome 15

1991

Cytogenet Genome Res

View full text Add to dashboard Cite

“…The presence of a trinucleotide repeat region in the Alu RBP gene suggests that this might be a region of variability or instability. In this regard, it is noteworthy that characteristics previously mapped to human chromosome 15q22 include a fragile site (3), a breakpoint found in most cases of acute promyelocytic leukemia (30), and a restriction fragment length polymorphism (7). Examination of variability in the trinucleotide repeat region of the Alu RBP gene at chromosome 15q22 may be informative.…”

Section: Gcagcagcaacagcaccaacaacagcagcaacaacagcagcaacagcagcacagtaaaggmentioning

confidence: 99%

A human Alu RNA-binding protein whose expression is associated with accumulation of small cytoplasmic Alu RNA.

Chang¹,

Nelson²,

Bilyeu³

et al. 1994

Mol. Cell. Biol.

View full text Add to dashboard Cite

Human Alu sequences are short interspersed DNA elements which have been greatly amplified by retrotransposition. Although initially derived from the 7SL RNA component of signal recognition particle (SRP), the Alu sequence has evolved into a dominant transposon while retaining a specific secondary structure found in 7SL RNA. We previously characterized a set of Alu sequences which are expressed as small cytoplasmic RNAs and isolated a protein that binds to these transcripts. Here we report that biochemical purification of this protein revealed it as the human homolog of the SRP 14 polypeptide which binds the Alu-homologous region of 7SL RNA. The human cDNA predicts an alanine-rich C-terminal tail translated from a trinucleotide repeat not found in the rodent homolog, which accounts for why the human protein-RNA complex migrates more slowly than its rodent counterpart in RNA mobility shift assays. The human Alu RNA-binding protein (RBP) is expressed after transfection of this cDNA into mouse cells. Expression of human RBP in rodent x human somatic cell hybrids is associated with substantial increase in endogenous small cytoplasmic Alu and scBl transcripts but not other small RNAs. These studies provide evidence that this RBP associates with Alu transcripts in vivo and affects their metabolism and suggests a role for Alu transcripts in translation in an SRP-like manner. Analysis of hybrid lines indicated that the Ahu RBP gene maps to human chromosome 15q22, which was confirmed by Southern blotting. The possibility that the primate-specific structure of this protein may have contributed to Alu evolution is considered.Alu sequences are short transposed elements endogenous to the human genome (24, 55). These elements have accumulated to nearly 1 million copies comprising approximately 5% of human DNA. Alu repeats have sequence homology with and are believed to have been derived from the Alu-homologous region of the 7SL RNA component of signal recognition particle (SRP) (64,69,70,71). The current model of Alu evolution suggests that two independently derived Alu-homologous domains of 7SL dimerized to form the more efficient transposing element known as Alu (26,28,45,46,47). Since then, Alu repeats have continued to evolve within primate genomes. A major advance in understanding Alu mobility was the result of work by researchers in several laboratories who classified Alu repeats into subfamilies according to their evolutionary relatedness as determined by sequence homology (8,27,45,59,72). This, together with recent phylogenetic evidence, indicates that multiple Alu source genes continue to spawn new transposed elements (22, 25, 31, 39, 42, 67; reviewed in reference 49).Why genetic elements with disruptive potential have been allowed to proliferate to high copy number in human DNA remains enigmatic. Perhaps Alu mobility improves adaptability of the host genome, or perhaps Alu DNA elements or their RNA products have adopted a function(s) which more directly benefits their host cells (9,19,51,74). Given their short lengt...

show abstract

“…The physical location of the MFSJ locus is 15ql.5 -+ q2.1. This localization is presumed because DJSSJ, a marker tightly linked to D15S48 (21,22) has been localized by in situ hybridization on this region (28). It would be a very interesting to know whether the fibrillin locus is also located in the same region.…”

Section: Discussionmentioning

confidence: 99%

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

Tsipouras

Sarfarazi

Devi

et al. 1991

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

Marfan syndrome is a systemic disorder of the connective tissue inherited as an autosomal dominant trait. The disorder imparts significant morbidity and mortality. The etiology of the disorder remains elusive. A recent study localized the gene for Marfan syndrome on chromosome 15. We present data showing that marker DISS48 is genetically linked to Marfan syndrome. Pairwise linkage analysis gave a maximum lod (logarithm of odds) score of Z = 11.78 at 0 = 0.02. Furthermore our data suggest that the Marfan syndrome locus is possibly flanked on either side by DISS48 and DISS49.Marfan syndrome is an autosomal dominant disorder of the connective tissue, characterized by cardiovascular, musculoskeletal, ocular, and pulmonary abnormalities (1). This condition is estimated to have a prevalence of4-6 per 100,000 individuals, imparts significant morbidity, and if untreated, reduces significantly the life expectancy (2 tTo whom reprint requests should be addressed. 4486The publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.

show abstract

Regional assignments of three polymorphic DNA segments on human chromosome 15

Cited by 16 publications

References 19 publications

Abstracts for the committee on the genetic constitution of chromosome 15

Abstracts for the committee on the genetic constitution of chromosome 15

A human Alu RNA-binding protein whose expression is associated with accumulation of small cytoplasmic Alu RNA.

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

Contact Info

Product

Resources

About