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Contents
Human Molecular Genetics
Volume 18 number 7
1 April 2009
ARTICLES
The loss of the snoRNP chaperone Nopp140 from Cajal
bodies of patient fibroblasts correlates with the severity
of spinal muscular atrophy
B. Renvoisé, S. Colasse, P. Burlet, L. Viollet,
U.T. Meier, and S. Lefebvre
1181
Suppression of GFAP toxicity by aB-crystallin in mouse
models of Alexander disease
T.L. Hagemann, W.C. Boelens, E.F. Wawrousek,
and A. Messing
1190
Duplication within the SEPT9 gene associated with a
founder effect in North American families with
hereditary neuralgic amyotrophy
M.L. Landsverk, E.K. Ruzzo, H.C. Mefford,
K. Buysse, J.G. Buchan, E.E. Eichler, E.M. Petty,
E.A. Peterson, D.M. Knutzen, K. Barnett,
M.R. Farlow, J. Caress, G.J. Parry, D. Quan,
K.L. Gardner, M. Hong, Z. Simmons, T.D. Bird,
P.F. Chance, and M.C. Hannibal
1200
Sub-physiological sarcoglycan expression contributes
to compensatory muscle protection in mdx mice
D. Li, C. Long, Y. Yue, and D. Duan
1209
Retrotransposon RNA expression and evidence for
retrotransposition events in human oocytes
I. Georgiou, D. Noutsopoulos, E. Dimitriadou,
G. Markopoulos, A. Apergi, L. Lazaros,
T. Vaxevanoglou, K. Pantos, M. Syrrou, and
T. Tzavaras
1221
Tannic acid facilitates expression of the polypyrimidine
tract binding protein and alleviates deleterious inclusion
of CHRNA1 exon P3A due to an hnRNP H-disrupting
mutation in congenital myasthenic syndrome
Y. Bian, A. Masuda, T. Matsuura, M. Ito,
K. Okushin, A.G. Engel, and K. Ohno
1229
The multimeric structure of polycystin-2 (TRPP2):
structural–functional correlates of homo- and
hetero-multimers with TRPC1
P. Zhang, Y. Luo, B. Chasan, S. González-Perrett,
N. Montalbetti, G.A. Timpanaro, M. del Rocı́o
Cantero, A.J. Ramos, W.H. Goldmann, J. Zhou, and
H.F. Cantiello
1238
Loss of Tsc2 in radial glia models the brain pathology
of tuberous sclerosis complex in the mouse
S.W. Way, J. McKenna III, U. Mietzsch, R.M. Reith,
H.C. Wu, and M.J. Gambello
1252
In conditions of limited chromophore supply rods entrap
11-cis-retinal leading to loss of cone function and cell
death
M. Samardzija, N. Tanimoto, C. Kostic, S. Beck,
V. Oberhauser, S. Joly, M. Thiersch, E. Fahl,
Y. Arsenijevic, J. von Lintig, A. Wenzel,
M.W. Seeliger, and C. Grimm
1266
Glaucoma-associated WDR36 variants encode
functional defects in a yeast model system
T.K. Footz, J.L. Johnson, S. Dubois, N. Boivin,
V. Raymond, and M.A. Walter
1276
IGHMBP2 is a ribosome-associated helicase inactive in
the neuromuscular disorder distal SMA type 1 (DSMA1)
U.-P. Guenther, L. Handoko, B. Laggerbauer,
S. Jablonka, A. Chari, M. Alzheimer, J. Ohmer,
O. Plöttner, N. Gehring, A. Sickmann, K. von Au,
M. Schuelke, and U. Fischer
1288
The Aurora Kinase C c.144delC mutation causes meiosis
I arrest in men and is frequent in the North African
population
K. Dieterich, R. Zouari, R. Harbuz, F. Vialard,
D. Martinez, H. Bellayou, N. Prisant, A. Zoghmar,
M.R. Guichaoua, I. Koscinski, M. Kharouf,
M. Noruzinia, S. Nadifi, A. Sefiani, J. Lornage,
M. Zahi, S. Viville, B. Sèle, P.-S. Jouk, M.-C. Jacob,
D. Escalier, Y. Nikas, S. Hennebicq, J. Lunardi,
and P.F. Ray
1301
Translational readthrough by the aminoglycoside
geneticin (G418) modulates SMN stability in vitro
and improves motor function in SMA mice in vivo
C.R. Heier and C.J. DiDonato
1310
Requirement of Bardet-Biedl syndrome proteins for
leptin receptor signaling
S. Seo, D.-F. Guo, K. Bugge, D.A. Morgan,
K. Rahmouni, and V.C. Sheffield
1323
Gene-body hypermethylation of ATM in peripheral
blood DNA of bilateral breast cancer patients
J.M. Flanagan, M. Munoz-Alegre, S. Henderson,
T. Tang, P. Sun, N. Johnson, O. Fletcher, I. dos
Santos Silva, J. Peto, C. Boshoff, S. Narod, and
A. Petronis
1332
The SRY-HMG box gene, SOX4, is a target of gene
amplification at chromosome 6p in lung cancer
P.P. Medina, S.D. Castillo, S. Blanco,
M. Sanz-Garcia, C. Largo, S. Alvarez, J. Yokota,
A. Gonzalez-Neira, J. Benitez, H.C. Clevers,
J.C. Cigudosa, P.A. Lazo, and M. Sanchez-Cespedes
1343
Deficiency of the E3 ubiquitin ligase TRIM32 in mice
leads to a myopathy with a neurogenic component
E. Kudryashova, J. Wu, L.A. Havton, and
M.J. Spencer
1353
B.-L. Chang, S.D. Cramer, F. Wiklund, S.D. Isaacs,
V.L. Stevens, J. Sun, S. Smith, K. Pruett,
L.M. Romero, K.E. Wiley, S.-T. Kim, Y. Zhu,
Z. Zhang, F.-C. Hsu, A.R. Turner, J. Adolfsson,
W. Liu, J.W. Kim, D. Duggan, J. Carpten,
S.L. Zheng, C. Rodriguez, W.B. Isaacs,
H. Grönberg, and J. Xu
1368
ASSOCIATION STUDIES ARTICLE
Fine mapping association study and functional analysis
implicate a SNP in MSMB at 10q11 as a causal variant
for prostate cancer risk
Cover: The cover image shows in fertile males, spermatocyte I undergo two meiotic divisions (M1, M2) leading to the production
of haploid gametes with 1c of DNA. Germ cells from homozygous mutated men undergo DNA synthesis but do not carry out any
meiotic division and retain a 4c DNA content. The cells maintain a large size but spermiogenesis takes place with an elongation
of the head, a reduction of the cytoplasmic volume and the acquisition of several flagella as illustrated in the bottom panel of
the electron microscope images (normal sperm from a fertile control is shown in the top left corner). See K. Dieterich et al.,
pp. 1301–1309.