Literature DB >> 10444334

Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13.

A C Wong1, D Shkolny, A Dorman, D Willingham, B A Roe, H E McDermid.   

Abstract

Two closely related genes have been identified at 2q13 and 22q13.3. These genes show similarity to members of the RAB family of small GTPases. RABL2A and RABL2B differ by three conservative amino acid changes over a total of 228 residues. Both are expressed in all tissues tested. Northern analysis showed that a 2.5-kb transcript is expressed in all tissues tested while a 1.4-kb transcript is specifically expressed only in muscle. The size difference between these two transcripts is the result of differential splicing of an intron within the 3' UTR. RABL2B is located within the subtelomeric region of 22q13.3. RABL2A maps to 2q13, the site of an ancestral telomere fusion event, suggesting that it also may be a subtelomeric gene. Copyright 1999 Academic Press.

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Year:  1999        PMID: 10444334     DOI: 10.1006/geno.1999.5889

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  16 in total

1.  The evolutionary origin of human subtelomeric homologies--or where the ends begin.

Authors:  Christa Lese Martin; Andrew Wong; Alyssa Gross; June Chung; Judy A Fantes; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2002-03-01       Impact factor: 11.025

2.  Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.

Authors:  Yuxin Fan; Tera Newman; Elena Linardopoulou; Barbara J Trask
Journal:  Genome Res       Date:  2002-11       Impact factor: 9.043

3.  Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Authors:  M C Bonaglia; R Giorda; R Borgatti; G Felisari; C Gagliardi; A Selicorni; O Zuffardi
Journal:  Am J Hum Genet       Date:  2001-06-18       Impact factor: 11.025

4.  Constant splice-isoform ratios in human lymphoblastoid cells support the concept of a splico-stat.

Authors:  Marcel Kramer; Klaus Huse; Uwe Menzel; Oliver Backhaus; Philip Rosenstiel; Stefan Schreiber; Jochen Hampe; Matthias Platzer
Journal:  Genetics       Date:  2011-01-10       Impact factor: 4.562

5.  RABL-regulated pathways: a new tale in sperm function.

Authors:  Charles M Allan
Journal:  Asian J Androl       Date:  2012-12-10       Impact factor: 3.285

6.  The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.

Authors:  Tomoharu Kanie; Keene Louis Abbott; Nancie Ann Mooney; Edward Douglas Plowey; Janos Demeter; Peter Kent Jackson
Journal:  Dev Cell       Date:  2017-06-15       Impact factor: 12.270

7.  Position effect of human telomeric repeats on replication timing.

Authors:  R Ofir; A C Wong; H E McDermid; K L Skorecki; S Selig
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-28       Impact factor: 11.205

8.  Variants in RABL2A causing male infertility and ciliopathy.

Authors:  Xinbao Ding; Robert Fragoza; Priti Singh; Shu Zhang; Haiyuan Yu; John C Schimenti
Journal:  Hum Mol Genet       Date:  2020-12-18       Impact factor: 6.150

9.  The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects.

Authors:  Seyedeh Hanieh Hosseini; Mohammad Ali Sadighi Gilani; Anahita Mohseni Meybodi; Marjan Sabbaghian
Journal:  J Assist Reprod Genet       Date:  2017-01-30       Impact factor: 3.412

10.  Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Authors:  H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

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